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Index > Protein center > COL7A1(Gene name) > Human
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  • COL7A1 (Gene name),
  • Collagen alpha-1(VII) chain (Protein name ),  CO7A1_HUMAN from NCBI database.
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  • Gene name:
    COL7A1;
    Protein name:
    Collagen alpha-1(VII) chain;
    Alternative:
    Long-chain collagen(LC collagen);
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Homotrimer. Interacts with MIA3/TANGO1; facilitating its loading into transport carriers and subsequent secretion.
    Function:
    Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen.
    Subcellular Location:
    Secreted extracellular space extracellular matrix basement membrane
    Protein Attributes:
    Sequence length:
    2944
    Sequence:
    50:
    MTLRLLVAAL | CAGILAEAPR | VRAQHRERVT | CTRLYAADIV | FLLDGSSSIG | 
    100:
    RSNFREVRSF | LEGLVLPFSG | AASAQGVRFA | TVQYSDDPRT | EFGLDALGSG | 
    150:
    GDVIRAIREL | SYKGGNTRTG | AAILHVADHV | FLPQLARPGV | PKVCILITDG | 
    200:
    KSQDLVDTAA | QRLKGQGVKL | FAVGIKNADP | EELKRVASQP | TSDFFFFVND | 
    250:
    FSILRTLLPL | VSRRVCTTAG | GVPVTRPPDD | STSAPRDLVL | SEPSSQSLRV | 
    300:
    QWTAASGPVT | GYKVQYTPLT | GLGQPLPSER | QEVNVPAGET | SVRLRGLRPL | 
    350:
    TEYQVTVIAL | YANSIGEAVS | GTARTTALEG | PELTIQNTTA | HSLLVAWRSV | 
    400:
    PGATGYRVTW | RVLSGGPTQQ | QELGPGQGSV | LLRDLEPGTD | YEVTVSTLFG | 
    450:
    RSVGPATSLM | ARTDASVEQT | LRPVILGPTS | ILLSWNLVPE | ARGYRLEWRR | 
    500:
    ETGLEPPQKV | VLPSDVTRYQ | LDGLQPGTEY | RLTLYTLLEG | HEVATPATVV | 
    550:
    PTGPELPVSP | VTDLQATELP | GQRVRVSWSP | VPGATQYRII | VRSTQGVERT | 
    600:
    LVLPGSQTAF | DLDDVQAGLS | YTVRVSARVG | PREGSASVLT | VRREPETPLA | 
    650:
    VPGLRVVVSD | ATRVRVAWGP | VPGASGFRIS | WSTGSGPESS | QTLPPDSTAT | 
    700:
    DITGLQPGTT | YQVAVSVLRG | REEGPAAVIV | ARTDPLGPVR | TVHVTQASSS | 
    750:
    SVTITWTRVP | GATGYRVSWH | SAHGPEKSQL | VSGEATVAEL | DGLEPDTEYT | 
    800:
    VHVRAHVAGV | DGPPASVVVR | TAPEPVGRVS | RLQILNASSD | VLRITWVGVT | 
    850:
    GATAYRLAWG | RSEGGPMRHQ | ILPGNTDSAE | IRGLEGGVSY | SVRVTALVGD | 
    900:
    REGTPVSIVV | TTPPEAPPAL | GTLHVVQRGE | HSLRLRWEPV | PRAQGFLLHW | 
    950:
    QPEGGQEQSR | VLGPELSSYH | LDGLEPATQY | RVRLSVLGPA | GEGPSAEVTA | 
    1000:
    RTESPRVPSI | ELRVVDTSID | SVTLAWTPVS | RASSYILSWR | PLRGPGQEVP | 
    1050:
    GSPQTLPGIS | SSQRVTGLEP | GVSYIFSLTP | VLDGVRGPEA | SVTQTPVCPR | 
    1100:
    GLADVVFLPH | ATQDNAHRAE | ATRRVLERLV | LALGPLGPQA | VQVGLLSYSH | 
    1150:
    RPSPLFPLNG | SHDLGIILQR | IRDMPYMDPS | GNNLGTAVVT | AHRYMLAPDA | 
    1200:
    PGRRQHVPGV | MVLLVDEPLR | GDIFSPIREA | QASGLNVVML | GMAGADPEQL | 
    1250:
    RRLAPGMDSV | QTFFAVDDGP | SLDQAVSGLA | TALCQASFTT | QPRPEPCPVY | 
    1300:
    CPKGQKGEPG | EMGLRGQVGP | PGDPGLPGRT | GAPGPQGPPG | SATAKGERGF | 
    1350:
    PGADGRPGSP | GRAGNPGTPG | APGLKGSPGL | PGPRGDPGER | GPRGPKGEPG | 
    1400:
    APGQVIGGEG | PGLPGRKGDP | GPSGPPGPRG | PLGDPGPRGP | PGLPGTAMKG | 
    1450:
    DKGDRGERGP | PGPGEGGIAP | GEPGLPGLPG | SPGPQGPVGP | PGKKGEKGDS | 
    1500:
    EDGAPGLPGQ | PGSPGEQGPR | GPPGAIGPKG | DRGFPGPLGE | AGEKGERGPP | 
    1550:
    GPAGSRGLPG | VAGRPGAKGP | EGPPGPTGRQ | GEKGEPGRPG | DPAVVGPAVA | 
    1600:
    GPKGEKGDVG | PAGPRGATGV | QGERGPPGLV | LPGDPGPKGD | PGDRGPIGLT | 
    1650:
    GRAGPPGDSG | PPGEKGDPGR | PGPPGPVGPR | GRDGEVGEKG | DEGPPGDPGL | 
    1700:
    PGKAGERGLR | GAPGVRGPVG | EKGDQGDPGE | DGRNGSPGSS | GPKGDRGEPG | 
    1750:
    PPGPPGRLVD | TGPGAREKGE | PGDRGQEGPR | GPKGDPGLPG | APGERGIEGF | 
    1800:
    RGPPGPQGDP | GVRGPAGEKG | DRGPPGLDGR | SGLDGKPGAA | GPSGPNGAAG | 
    1850:
    KAGDPGRDGL | PGLRGEQGLP | GPSGPPGLPG | KPGEDGKPGL | NGKNGEPGDP | 
    1900:
    GEDGRKGEKG | DSGASGREGR | DGPKGERGAP | GILGPQGPPG | LPGPVGPPGQ | 
    1950:
    GFPGVPGGTG | PKGDRGETGS | KGEQGLPGER | GLRGEPGSVP | NVDRLLETAG | 
    2000:
    IKASALREIV | ETWDESSGSF | LPVPERRRGP | KGDSGEQGPP | GKEGPIGFPG | 
    2050:
    ERGLKGDRGD | PGPQGPPGLA | LGERGPPGPS | GLAGEPGKPG | IPGLPGRAGG | 
    2100:
    VGEAGRPGER | GERGEKGERG | EQGRDGPPGL | PGTPGPPGPP | GPKVSVDEPG | 
    2150:
    PGLSGEQGPP | GLKGAKGEPG | SNGDQGPKGD | RGVPGIKGDR | GEPGPRGQDG | 
    2200:
    NPGLPGERGM | AGPEGKPGLQ | GPRGPPGPVG | GHGDPGPPGA | PGLAGPAGPQ | 
    2250:
    GPSGLKGEPG | ETGPPGRGLT | GPTGAVGLPG | PPGPSGLVGP | QGSPGLPGQV | 
    2300:
    GETGKPGAPG | RDGASGKDGD | RGSPGVPGSP | GLPGPVGPKG | EPGPTGAPGQ | 
    2350:
    AVVGLPGAKG | EKGAPGGLAG | DLVGEPGAKG | DRGLPGPRGE | KGEAGRAGEP | 
    2400:
    GDPGEDGQKG | APGPKGFKGD | PGVGVPGSPG | PPGPPGVKGD | LGLPGLPGAP | 
    2450:
    GVVGFPGQTG | PRGEMGQPGP | SGERGLAGPP | GREGIPGPLG | PPGPPGSVGP | 
    2500:
    PGASGLKGDK | GDPGVGLPGP | RGERGEPGIR | GEDGRPGQEG | PRGLTGPPGS | 
    2550:
    RGERGEKGDV | GSAGLKGDKG | DSAVILGPPG | PRGAKGDMGE | RGPRGLDGDK | 
    2600:
    GPRGDNGDPG | DKGSKGEPGD | KGSAGLPGLR | GLLGPQGQPG | AAGIPGDPGS | 
    2650:
    PGKDGVPGIR | GEKGDVGFMG | PRGLKGERGV | KGACGLDGEK | GDKGEAGPPG | 
    2700:
    RPGLAGHKGE | MGEPGVPGQS | GAPGKEGLIG | PKGDRGFDGQ | PGPKGDQGEK | 
    2750:
    GERGTPGIGG | FPGPSGNDGS | AGPPGPPGSV | GPRGPEGLQG | QKGERGPPGE | 
    2800:
    RVVGAPGVPG | APGERGEQGR | PGPAGPRGEK | GEAALTEDDI | RGFVRQEMSQ | 
    2850:
    HCACQGQFIA | SGSRPLPSYA | ADTAGSQLHA | VPVLRVSHAE | EEERVPPEDD | 
    2900:
    EYSEYSEYSV | EEYQDPEAPW | DSDDPCSLPL | DEGSCTAYTL | RWYHRAVTGS | 
    2944:
    TEACHPFVYG | GCGGNANRFG | TREACERRCP | PRVVQSQGTG | TAQD
    3D Structure:
    N/A
    Predicted Eptitope:
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    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    SMR:
    Pfam:
    KEGG:
    MIM:
    UniGene:
    String:
    Uniprot:
     
    FOR
    ELISA Kit for Human Collagen alpha-1(VII) chain
    Cat.:
    E1468h
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    MSDS:
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    Packing:
    96T
    Range:
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    ELISA Kit for Human Collagen alpha-1(VII) chain
    Cat.:
    E1468m
    Price:
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    MSDS:
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    Packing:
    96T
    CLIA Kit for Human Collagen alpha-1(VII) chain
    Cat.:
    U1468h
    Price:
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    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Collagen alpha-1(VII) chain
    Cat.:
    U1468m
    Price:
    Please sign in first.
    MSDS:
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    Packing:
    96T
    Polyclonal Antibody for Human Collagen alpha-1(VII) chain
    Cat.:
    P1468Rb-h
    Price:
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Collagen alpha-1(VII) chain
    Cat.:
    P1468Rb-m
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human Collagen alpha-1(VII) chain
    Monoclonal Antibody for Human Collagen alpha-1(VII) chain
    Protein for Human Collagen alpha-1(VII) chain
    Protein for Human Collagen alpha-1(VII) chain

    R&D Technical Data
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    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
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    Precision
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    Recovery
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    Linearity
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    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
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    References
    1. 1.
      "Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene."
      Christiano A.M. , Hoffman G.G. , Chung-Honet L.C. , Lee S. , Cheng W. , Uitto J. , Greenspan D.S.
      Genomics21:169-179(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2)
      tissue: Placenta.
    2. 2.
      "Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms."
      Christiano A.M. , Greenspan D.S. , Lee S. , Uitto J.
      J. Biol. Chem.269:20256-20262(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
    3. 3.
      "The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor."
      Christiano A.M. , Rosenbaum L.M. , Chung-Honet L.C. , Parente M.G. , Woodley D.T. , Pan T.C. , Zhang R.Z. , Chu M.-L. , Burgeson R.E. , Uitto J.
      Hum. Mol. Genet.1:475-481(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 128-1493;PARTIAL PROTEIN SEQUENCE
    4. 4.
      "Molecular cloning and characterization of type VII collagen cDNA."
      Tanaka T. , Takahashi K. , Furukawa F. , Imamura S.
      Biochem. Biophys. Res. Commun.183:958-963(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 195-1275
      tissue: Keratinocyte.
    5. 5.
      "Noncollagenous (NC1) domain of collagen VII resembles multidomain adhesion proteins involved in tissue-specific organization of extracellular matrix."
      Gammon W.R. , Abernethy M.L. , Padilla K.M. , Prisayanh P.S. , Cook M.E. , Wright J. , Briggaman R.A. , Hunt S.W. III
      J. Invest. Dermatol.99:691-696(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 369-1255
    6. 6.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 815-1439
    7. 7.
      "The carboxyl-terminal half of type VII collagen, including the non-collagenous NC-2 domain and intron/exon organization of the corresponding region of the COL7A1 gene."
      Greenspan D.S.
      Hum. Mol. Genet.2:273-278(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2395-2944
    8. 8.
      "Cleavage of type VII collagen by interstitial collagenase and type IV collagenase (gelatinase) derived from human skin."
      Seltzer J.L. , Eisen A.Z. , Bauer E.A. , Morris N.P. , Glanville R.W. , Burgeson R.E.
      J. Biol. Chem.264:3822-3826(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PARTIAL PROTEIN SEQUENCE;HYDROXYLATION
    9. 9.
      "TANGO1 facilitates cargo loading at endoplasmic reticulum exit sites."
      Saito K. , Chen M. , Bard F. , Chen S. , Zhou H. , Woodley D. , Polischuk R. , Schekman R. , Malhotra V.
      Cell136:891-902(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH MIA3
    10. 10.
      "Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1)."
      Jaervikallio A. , Pulkkinen L. , Uitto J.
      Hum. Mutat.10:338-347(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
    11. 11.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    12. 12.
      "Epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome."
      Fine J.-D. , Johnson L. , Wright T.
      Arch. Dermatol.125:633-638(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EBDSC ARG-2034
    13. 13.
      "A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa."
      Christiano A.M. , Greenspan D.S. , Hoffman G.G. , Zhang X. , Tamai Y. , Lin A.N. , Dietz H.C. , Hovnanian A. , Uitto J.
      Nat. Genet.4:62-66(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HS-DEB LYS-2798
    14. 14.
      "Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen."
      Christiano A.M. , Ryynaenen M. , Uitto J.
      Proc. Natl. Acad. Sci. U.S.A.91:3549-3553(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT P-DEB SER-2040
    15. 15.
      "Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen."
      Christiano A.M. , Lee J.Y.-Y. , Chen W.J. , Laforgia S. , Uitto J.
      Hum. Mol. Genet.4:1579-1583(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT PR-DEB CYS-2623
    16. 16.
      "A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa."
      Christiano A.M. , Morricone A. , Paradisi M. , Angelo C. , Mazzanti C. , Cavalieri R. , Uitto J.
      J. Invest. Dermatol.104:438-440(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DDEB ARG-2043
    17. 17.
      "Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance."
      Christiano A.M. , McGrath J.A. , Tan K.C. , Uitto J.
      Am. J. Hum. Genet.58:671-681(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS DEB
    18. 18.
      "Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity."
      Shimizu H. , McGrath J.A. , Christiano A.M. , Nishikawa T. , Uitto J.
      J. Invest. Dermatol.106:119-124(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HS-DEB ARG-2575
    19. 19.
      "Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa."
      Christiano A.M. , McGrath J.A. , Uitto J.
      J. Invest. Dermatol.106:766-770(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT RDEB ARG-1782
    20. 20.
      "Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa."
      Dunnill M.G.S. , McGrath J.A. , Richards A.J. , Christiano A.M. , Uitto J. , Pope F.M. , Eady R.A.J.
      J. Invest. Dermatol.107:171-177(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT RDEB ASP-2073
    21. 21.
      "Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation."
      Hovnanian A. , Rochat A. , Bodemer C. , Petit E. , Rivers C.A. , Prost C. , Fraitag S. , Christiano A.M. , Uitto J. , Lathrop M. , Barrandon Y. , de Prost Y.
      Am. J. Hum. Genet.61:599-610(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HS-DEB TRP-1982; GLY-2008; ALA-2025; GLU-2049; TRP-2063 AND ARG-2575
    22. 22.
      "Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa."
      Cserhalmi-Friedman P.B. , Karpati S. , Horvath A. , Christiano A.M.
      Arch. Dermatol. Res.289:640-645(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT RDEB ARG-1652
    23. 23.
      "Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene."
      Winberg J.-O. , Hammami-Hauasli N. , Nilssen O. , Anton-Lamprecht I. , Naylor S.L. , Kerbacher K. , Zimmermann M. , Krajci P. , Gedde-Dahl T. Jr. , Bruckner-Tuderman L.
      Hum. Mol. Genet.6:1125-1135(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT RDEB ARG-2009;VARIANT DDEB ARG-2043
    24. 24.
      "Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering."
      Hammami-Hauasli N. , Schumann H. , Raghunath M. , Kilgus O. , Luethi U. , Luger T. , Bruckner-Tuderman L.
      J. Biol. Chem.273:19228-19234(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS DDEB ASP-1519; ASP-2006; GLU-2015 AND ARG-2034
    25. 25.
      "Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa."
      Kon A. , Pulkkinen L. , Ishida-Yamamoto A. , Hashimoto I. , Uitto J.
      J. Invest. Dermatol.111:534-537(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HS-DEB CYS-2008;VARIANT DDEB ARG-2207;VARIANT RDEB SER-2775
    26. 26.
      "Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa."
      Terracina M. , Posteraro P. , Schubert M. , Sonego G. , Atzori F. , Zambruno G. , Bruckner-Tuderman L. , Castiglia D.
      J. Invest. Dermatol.111:744-750(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT RDEB ARG-1347
    27. 27.
      "Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling."
      Rouan F. , Pulkkinen L. , Jonkman M.F. , Bauer J.W. , Cserhalmi-Friedman P.B. , Christiano A.M. , Uitto J.
      J. Invest. Dermatol.111:1210-1213(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS DDEB TRP-2034; VAL-2040; ARG-2043; ARG-2064 AND ASP-2713
    28. 28.
      "Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations."
      Hammami-Hauasli N. , Raghunath M. , Kuester W. , Bruckner-Tuderman L.
      J. Invest. Dermatol.111:1214-1219(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS TBDN ASP-1519 AND GLU-2251
    29. 29.
      "Diagnostic dilemma of 'sporadic' cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?"
      Hashimoto I. , Kon A. , Tamai K. , Uitto J.
      Exp. Dermatol.8:140-142(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS DDEB/RDEB TRP-2063 AND SER-2366;VARIANT DDEB GLU-2079
    30. 30.
      "Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa."
      Cserhalmi-Friedman P.B. , Grossman J. , Karpati S. , Ahmad W. , Horvath A. , Christiano A.M.
      Exp. Dermatol.8:143-145(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DDEB/RDEB ARG-2348
    31. 31.
      "Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study."
      Christiano A.M. , Crollick J. , Pincus S. , Uitto J.
      Exp. Dermatol.8:146-152(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DDEB ARG-2079
    32. 32.
      "Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa."
      Mecklenbeck S. , Hammami-Hauasli N. , Hoepfner B. , Schumann H. , Kramer A. , Kuester W. , Bruckner-Tuderman L.
      J. Invest. Dermatol.112:398-400(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS DDEB ASP-2006; GLU-2015; ARG-2034; TRP-2034; ARG-2043 AND TRP-2043;VARIANTS HS-DEB CYS-2008 AND GLY-2008;VARIANT RDEB ARG-2009
    33. 33.
      "Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1)."
      Jonkman M.F. , Moreno G. , Rouan F. , Oranje A.P. , Pulkkinen L. , Uitto J.
      J. Invest. Dermatol.112:815-817(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT P-DEB GLU-2037
    34. 34.
      "Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa."
      Mellerio J.E. , Ashton G.H.S. , Mohammedi R. , Lyon C.C. , Kirby B. , Harman K.E. , Salas-Alanis J.C. , Atherton D.J. , Harrison P.V. , Griffiths W.A.D. , Black M.M. , Eady R.A.J. , McGrath J.A.
      J. Invest. Dermatol.112:984-987(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EBP GLU-1791; ARG-2242; SER-2369 AND ARG-2713
    35. 35.
      "Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype."
      Shimizu H. , Hammami-Hauasli N. , Hatta N. , Nishikawa T. , Bruckner-Tuderman L.
      J. Invest. Dermatol.113:419-421(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ARG-2287 AND ARG-2316
    36. 36.
      "Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis."
      Whittock N.V. , Ashton G.H.S. , Mohammedi R. , Mellerio J.E. , Mathew C.G. , Abbs S.J. , Eady R.A.J. , McGrath J.A.
      J. Invest. Dermatol.113:673-686(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS DEB
    37. 37.
      "A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa."
      Lee J.Y.-Y. , Li C. , Chao S.-C. , Pulkkinen L. , Uitto J.
      Arch. Dermatol. Res.292:159-163(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DDEB ARG-2028
    38. 38.
      "Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa."
      Murata T. , Masunaga T. , Shimizu H. , Takizawa Y. , Ishiko A. , Hatta N. , Nishikawa T.
      Arch. Dermatol. Res.292:477-481(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DDEB ALA-2028;VARIANT EBP ARG-2028
    39. 39.
      "Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa."
      Masunaga T. , Shimizu H. , Takizawa Y. , Uitto J. , Nishikawa T.
      J. Invest. Dermatol.114:204-205(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT RDEB ARG-1812
    40. 40.
      "Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets."
      Nordal E.J. , Mecklenbeck S. , Hausser I. , Skranes J. , Bruckner-Tuderman L. , Gedde-Dahl T. Jr.
      Br. J. Dermatol.144:151-157(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT RDEB SER-2031
    41. 41.
      "Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa."
      Sato-Matsumura K.C. , Yasukawa K. , Tomita Y. , Shimizu H.
      Arch. Dermatol.138:269-271(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NDNC8 ARG-1595 AND ARG-1815
    42. 42.
      "EB simplex superficialis resulting from a mutation in the type VII collagen gene."
      Martinez-Mir A. , Liu J. , Gordon D. , Weiner M.S. , Ahmad W. , Fine J.D. , Ott J. , Gilliam T.C. , Christiano A.M.
      J. Invest. Dermatol.118:547-549(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EBDSC ARG-2034
    43. 43.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS [LARGE SCALE ANALYSIS] PRO-119; THR-1364 AND TRP-1366
    44. 44.
      "Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica."
      Garcia M. , Escamez M.J. , Cuadrado-Corrales N. , Sanchez-Jimeno C. , Illera N. , Lopez-Martinez M.A. , Trujillo-Tiebas M.J. , Ayuso C. , Del Rio M.
      Hum. Genet.127:116-117(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALA-2221
    45. 45.
      "Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations."
      Jerabkova B. , Kopeckova L. , Buckova H. , Vesely K. , Valickova J. , Fajkusova L.
      J. Dermatol. Sci.59:136-140(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS RDEB ARG-1845; ARG-1981; GLU-2049; TRP-2063; CYS-2069; GLU-2296; ARG-2557 AND TRP-2622;VARIANTS DDEB ARG-2003; ASP-2040; ARG-2043; ARG-2064; ARG-2070 AND ASP-2076
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