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Index > Protein center > KRT5(Gene name) > Human
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  • KRT5 (Gene name),
  • Keratin, type II cytoskeletal 5 (Protein name ),  K2C5_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Related Databases
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  • Gene name:
    KRT5;
    Protein name:
    Keratin, type II cytoskeletal 5;
    Alternative:
    Cytokeratin-5(CK-5);58 kDa cytokeratin;Type-II keratin Kb5;Keratin-5(K5);
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Heterotetramer of two type I and two type II keratins. Keratin-5 associates with keratin-14. Interacts with TCHP.
    Function:
    N/A
    Subcellular Location:
    N/A
    Protein Attributes:
    Sequence length:
    590
    Sequence:
    50:
    MSRQSSVSFR | SGGSRSFSTA | SAITPSVSRT | SFTSVSRSGG | GGGGGFGRVS | 
    100:
    LAGACGVGGY | GSRSLYNLGG | SKRISISTSG | GSFRNRFGAG | AGGGYGFGGG | 
    150:
    AGSGFGFGGG | AGGGFGLGGG | AGFGGGFGGP | GFPVCPPGGI | QEVTVNQSLL | 
    200:
    TPLNLQIDPS | IQRVRTEERE | QIKTLNNKFA | SFIDKVRFLE | QQNKVLDTKW | 
    250:
    TLLQEQGTKT | VRQNLEPLFE | QYINNLRRQL | DSIVGERGRL | DSELRNMQDL | 
    300:
    VEDFKNKYED | EINKRTTAEN | EFVMLKKDVD | AAYMNKVELE | AKVDALMDEI | 
    350:
    NFMKMFFDAE | LSQMQTHVSD | TSVVLSMDNN | RNLDLDSIIA | EVKAQYEEIA | 
    400:
    NRSRTEAESW | YQTKYEELQQ | TAGRHGDDLR | NTKHEISEMN | RMIQRLRAEI | 
    450:
    DNVKKQCANL | QNAIADAEQR | GELALKDARN | KLAELEEALQ | KAKQDMARLL | 
    500:
    REYQELMNTK | LALDVEIATY | RKLLEGEECR | LSGEGVGPVN | ISVVTSSVSS | 
    550:
    GYGSGSGYGG | GLGGGLGGGL | GGGLAGGSSG | SYYSSSSGGV | GLGGGLSVGG | 
    590:
    SGFSASSGRG | LGVGFGSGGG | SSSSVKFVST | TSSSRKSFKS | 
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
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    Related Databases
    Pfam:
    MIM:
    UniGene:
    String:
    SMR:
    KEGG:
    Uniprot:
     
    FOR
    ELISA Kit for Human Keratin, type II cytoskeletal 5
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    ELISA Kit for Human Keratin, type II cytoskeletal 5
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    E2084r
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    ELISA Kit for Human Keratin, type II cytoskeletal 5
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    E2084b
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    ELISA Kit for Human Keratin, type II cytoskeletal 5
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    E2084m
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    CLIA Kit for Human Keratin, type II cytoskeletal 5
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    96T
    CLIA Kit for Human Keratin, type II cytoskeletal 5
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    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Keratin, type II cytoskeletal 5
    Cat.:
    U2084b
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    MSDS:
    Please sign in first.
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    CLIA Kit for Human Keratin, type II cytoskeletal 5
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    Packing:
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    Polyclonal Antibody for Human Keratin, type II cytoskeletal 5
    Cat.:
    P2084Rb-h
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Keratin, type II cytoskeletal 5
    Cat.:
    P2084Rb-m
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    Packing:
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    Polyclonal Antibody for Human Keratin, type II cytoskeletal 5
    Cat.:
    P2084Rb-r
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Keratin, type II cytoskeletal 5
    Monoclonal Antibody for Human Keratin, type II cytoskeletal 5
    Monoclonal Antibody for Human Keratin, type II cytoskeletal 5
    Monoclonal Antibody for Human Keratin, type II cytoskeletal 5
    Monoclonal Antibody for Human Keratin, type II cytoskeletal 5
    Protein for Human Keratin, type II cytoskeletal 5
    Protein for Human Keratin, type II cytoskeletal 5
    Protein for Human Keratin, type II cytoskeletal 5
    Protein for Human Keratin, type II cytoskeletal 5

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    Linearity
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    References
    1. 1.
      "The sequence of the human epidermal 58-kD (#5) type II keratin reveals an absence of 5' upstream sequence conservation between coexpressed epidermal keratins."
      Eckert R.L. , Rorke E.A.
      DNA7:337-345(1988) [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];VARIANTS ARG-79 AND THR-387
    2. 2.
      "Isolation, sequence, and expression of a human keratin K5 gene: transcriptional regulation of keratins and insights into pairwise control."
      Lersch R. , Stellmach V. , Stocks X. , Giudice G. , Fuchs E.
      Mol. Cell. Biol.9:3685-3697(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANT GLU-197
    3. 3.
      "Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5."
      Whittock N.V. , Eady R.A.J. , McGrath J.A.
      Biochem. Biophys. Res. Commun.274:149-152(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANTS ARG-79 AND THR-387
    4. 4.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [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 [LARGE SCALE MRNA];VARIANTS GLY-528 AND SER-543
      tissue: Brain.
      tissue: Pancreas.
    5. 5.
      "Sequence and expression of a type II keratin, K5, in human epidermal cells."
      Lersch R. , Fuchs E.
      Mol. Cell. Biol.8:486-493(1988) [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 83-590;VARIANT GLU-197
    6. 6.
      "A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex."
      Xu Z. , Dong H. , Sun X. , Zhu X. , Yang Y.
      Clin. Exp. Dermatol.29:74-76(2004) [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 186-256;VARIANT WC-EBS THR-199
    7. 7.
      "Isolation and characterization of a cDNA clone coding for human epidermal keratin K5. Sequence of the carboxyterminal half of this keratin."
      Galup C. , Darmon M.Y.
      J. Invest. Dermatol.91:39-42(1988) [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 348-590;VARIANT SER-543
    8. 8.
      "Identification of trichoplein, a novel keratin filament-binding protein."
      Nishizawa M. , Izawa I. , Inoko A. , Hayashi Y. , Nagata K. , Yokoyama T. , Usukura J. , Inagaki M.
      J. Cell Sci.118:1081-1090(2005) [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 TCHP
    9. 9.
      [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]
    10. 10.
      "Structural basis for heteromeric assembly and perinuclear organization of keratin filaments."
      Lee C.H. , Kim M.S. , Chung B.M. , Leahy D.J. , Coulombe P.A.
      Nat. Struct. Mol. Biol.19:707-715(2012) [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: X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF 350-477 IN COMPLEX WITH KRT14
    11. 11.
      "A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering."
      Lane E.B. , Rugg E.L. , Navsaria H.A. , Leigh I.M. , Heagerty A.H.M. , Ishida-Yamamoto A. , Eady R.A.J.
      Nature356:244-246(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: VARIANT DM-EBS GLY-475
    12. 12.
      "Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Kobner type of epidermolysis bullosa simplex."
      Dong W. , Ryynaenen M. , Uitto J.
      Hum. Mutat.2:94-102(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 K-EBS PRO-463
    13. 13.
      "Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on chromosome 12."
      Wanner R. , Foerster H.-H. , Tilmans I. , Mischke D.
      J. Invest. Dermatol.100:735-741(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 GLU-138
    14. 14.
      "Clustering of epidermolysis bullosa simplex mutations in relation to disease phenotype: data from Weber-Cockayne EBS."
      Smith F.J.D. , Morley S.M. , Rugg E.L. , Navsaria H.A. , Leigh I.M. , Eady R.A.J. , Tidman M.J. , Lane E.B.
      J. Invest. Dermatol.101:481A-481A(1993)
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DM-EBS LYS-193
    15. 15.
      "Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function."
      Rugg E.L. , Morley S.M. , Smith F.J.D. , Boxer M. , Tidman M.J. , Navsaria H.A. , Leigh I.M. , Lane E.B.
      Nat. Genet.5:294-300(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 WC-EBS CYS-331
    16. 16.
      "The genetic basis of Weber-Cockayne epidermolysis bullosa simplex."
      Chan Y.-M. , Yu Q.-C. , Fine J.-D. , Fuchs E.
      Proc. Natl. Acad. Sci. U.S.A.90:7414-7418(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 WC-EBS SER-161
    17. 17.
      "Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex."
      Chan Y.-M. , Yu Q.-C. , LeBlanc-Straceski J. , Christiano A. , Pulkkinen L. , Kucherlapati R.S. , Uitto J. , Fuchs E.
      J. Cell Sci.107:765-774(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: VARIANTS WC-EBS THR-327 AND LYS-329
    18. 18.
      "Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function."
      Stephens K. , Zlotogorski A. , Smith L. , Ehrlich P. , Wijsman E.M. , Livingston R.J. , Sybert V.P.
      Am. J. Hum. Genet.56:577-585(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 K-EBS ASN-173
    19. 19.
      "Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in linker 12 domain of keratin 5."
      Matsuki M. , Hashimoto K. , Yoshikawa K. , Yasuno H. , Yamanishi K.
      Hum. Mol. Genet.4:1999-2000(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 WC-EBS VAL-328
    20. 20.
      "Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland."
      Humphries M.M. , Mansergh F.C. , Kiang A.-S. , Jordan S.A. , Sheils D.M. , Martin M.J. , Farrar G.J. , Kenna P.F. , Young M.M. , Humphries P.
      Hum. Mutat.8:57-63(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 WC-EBS LYS-193 AND THR-327
    21. 21.
      "A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex."
      Nomura K. , Shimizu H. , Meng X. , Umeki K. , Tamai K. , Sawamura D. , Nagao K. , Kawakami T. , Nishikawa T. , Hashimoto I.
      J. Invest. Dermatol.107:253-254(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 DM-EBS PHE-175
    22. 22.
      "The genetic basis of epidermolysis bullosa simplex with mottled pigmentation."
      Uttam J. , Hutton M.E. , Coulombe P.A. , Anton-Lamprecht I. , Yu Q.-C. , Gedde-Dahl T. Jr. , Fine J.-D. , Fuchs E.
      Proc. Natl. Acad. Sci. U.S.A.93:9079-9084(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 MP-EBS LEU-25
    23. 23.
      "Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients."
      Stephens K. , Ehrlich P. , Weaver M. , Le R. , Spencer A. , Sybert V.P.
      J. Invest. Dermatol.108:349-353(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 DM-EBS SER-176; SER-179 AND LYS-477
    24. 24.
      "A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara."
      Irvine A.D. , McKenna K.E. , Bingham A. , Nevin N.C. , Hughes A.E.
      J. Invest. Dermatol.109:815-816(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 DM-EBS THR-467
    25. 25.
      "A novel mutation in the L12 domain of keratin 5 in the Koebner variant of epidermolysis bullosa simplex."
      Galligan P. , Listwan P. , Siller G.M. , Rothnagel J.A.
      J. Invest. Dermatol.111:524-527(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 K-EBS ALA-323
    26. 26.
      "Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex."
      Mueller F.B. , Kuester W. , Bruckner-Tuderman L. , Korge B.P.
      J. Invest. Dermatol.111:900-902(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 WC-EBS LEU-152; LYS-327 AND HIS-328
    27. 27.
      "Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients."
      Moog U. , de Die-Smulders C.E.M. , Scheffer H. , van der Vlies P. , Henquet C.J.M. , Jonkman M.F.
      Am. J. Med. Genet.86:376-379(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 MP-EBS LEU-25
    28. 28.
      "Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype."
      Soerensen C.B. , Ladekjaer-Mikkelsen A.-S. , Andresen B.S. , Brandrup F. , Veien N.K. , Buus S.K. , Anton-Lamprecht I. , Kruse T.A. , Jensen P.K.A. , Eiberg H. , Bolund L. , Gregersen N.
      J. Invest. Dermatol.112:184-190(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 DM-EBS SER-176;VARIANT K-EBS PRO-325
    29. 29.
      "Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential."
      Shemanko C.S. , Horn H.M. , Keohane S.G. , Hepburn N. , Kerr A.I.G. , Atherton D.J. , Tidman M.J. , Lane E.B.
      Br. J. Dermatol.142:315-320(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 DM-EBS PRO-181
    30. 30.
      "K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne)."
      Liovic M. , Podrumac B. , Dragos V. , Vouk K. , Komel R.
      Hum. Hered.50:234-236(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 WC-EBS GLU-328
    31. 31.
      "A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes."
      Liovic M. , Stojan J. , Bowden P.E. , Gibbs D. , Vahlquist A. , Lane E.B. , Komel R.
      J. Invest. Dermatol.116:964-969(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 K-EBS LEU-186
    32. 32.
      "Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly."
      Yasukawa K. , Sawamura D. , McMillan J.R. , Nakamura H. , Shimizu H.
      J. Biol. Chem.277:23670-23674(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 K-EBS LYS-170 AND LYS-418
    33. 33.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS WC-EBS LYS-167; PRO-311 AND ASP-324
    34. 34.
      "Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations."
      Schuilenga-Hut P.H.L. , Vlies P. , Jonkman M.F. , Waanders E. , Buys C.H.C.M. , Scheffer H.
      Hum. Mutat.21:447-447(2003) [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 WC-EBS GLU-404 AND ASP-438;VARIANTS DM-EBS LYS-475 AND LYS-477
    35. 35.
      "A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema."
      Gu L.-H. , Kim S.-C. , Ichiki Y. , Park J. , Nagai M. , Kitajima Y.
      J. Invest. Dermatol.121:482-485(2003) [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: INVOLVEMENT IN EBS WITH MIGRATORY CIRCINATE ERYTHEMA
    36. 36.
      "A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex."
      Li J.-G. , Feng J. , Xiao S.-X. , Ai Y.-L. , Wang J.-M. , Peng Z.-H.
      Clin. Exp. Dermatol.29:539-541(2004) [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 WC-EBS GLY-328
    37. 37.
      "A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype."
      Liovic M. , Bowden P.E. , Marks R. , Komel R.
      Exp. Dermatol.13:332-334(2004) [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 WC-EBS SER-177
    38. 38.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN DDD1
    39. 39.
      "Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases."
      Yasukawa K. , Sawamura D. , Goto M. , Nakamura H. , Jung S.-Y. , Kim S.-C. , Shimizu H.
      Br. J. Dermatol.155:313-317(2006) [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 WC-EBS LEU-25; VAL-158 AND SER-352;VARIANTS K-EBS ASP-143; MET-186; LEU-186; PRO-191 AND ASP-517;VARIANTS DM-EBS SER-176; LYS-475 AND LYS-477;VARIANT MP-EBS LEU-25
    40. 40.
      "Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly."
      Mueller F.B. , Kuester W. , Wodecki K. , Almeida H. Jr. , Bruckner-Tuderman L. , Krieg T. , Korge B.P. , Arin M.J.
      Hum. Mutat.27:719-720(2006) [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 DM-EBS LYS-168; PRO-169 AND PRO-469;VARIANTS WC-EBS LYS-190 AND HIS-331
    41. 41.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS WC-EBS GLU-186; LYS-193; PRO-321; VAL-328 AND THR-428;VARIANTS DM-EBS SER-165 AND LYS-477;VARIANT MP-EBS LEU-25;VARIANT K-EBS PRO-463
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