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Index > Protein center > CFH(Gene name) > Human
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  • CFH (Gene name),
  • Complement factor H (Protein name ),  CFAH_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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  • Citations  (1)
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  • Gene name:
    CFH(HF;HF1;HF2);
    Protein name:
    Complement factor H;
    Alternative:
    H factor 1;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    N/A
    Function:
    Factor H functions as a cofactor in the inactivation of C3b by factor I and also increases the rate of dissociation of the C3bBb complex (C3 convertase) and the (C3b)NBB complex (C5 convertase) in the alternative complement pathway.
    Subcellular Location:
    Secreted
    Protein Attributes:
    Sequence length:
    1231
    Sequence:
    50:
    MRLLAKIICL | MLWAICVAED | CNELPPRRNT | EILTGSWSDQ | TYPEGTQAIY | 
    100:
    KCRPGYRSLG | NVIMVCRKGE | WVALNPLRKC | QKRPCGHPGD | TPFGTFTLTG | 
    150:
    GNVFEYGVKA | VYTCNEGYQL | LGEINYRECD | TDGWTNDIPI | CEVVKCLPVT | 
    200:
    APENGKIVSS | AMEPDREYHF | GQAVRFVCNS | GYKIEGDEEM | HCSDDGFWSK | 
    250:
    EKPKCVEISC | KSPDVINGSP | ISQKIIYKEN | ERFQYKCNMG | YEYSERGDAV | 
    300:
    CTESGWRPLP | SCEEKSCDNP | YIPNGDYSPL | RIKHRTGDEI | TYQCRNGFYP | 
    350:
    ATRGNTAKCT | STGWIPAPRC | TLKPCDYPDI | KHGGLYHENM | RRPYFPVAVG | 
    400:
    KYYSYYCDEH | FETPSGSYWD | HIHCTQDGWS | PAVPCLRKCY | FPYLENGYNQ | 
    450:
    NYGRKFVQGK | SIDVACHPGY | ALPKAQTTVT | CMENGWSPTP | RCIRVKTCSK | 
    500:
    SSIDIENGFI | SESQYTYALK | EKAKYQCKLG | YVTADGETSG | SITCGKDGWS | 
    550:
    AQPTCIKSCD | IPVFMNARTK | NDFTWFKLND | TLDYECHDGY | ESNTGSTTGS | 
    600:
    IVCGYNGWSD | LPICYERECE | LPKIDVHLVP | DRKKDQYKVG | EVLKFSCKPG | 
    650:
    FTIVGPNSVQ | CYHFGLSPDL | PICKEQVQSC | GPPPELLNGN | VKEKTKEEYG | 
    700:
    HSEVVEYYCN | PRFLMKGPNK | IQCVDGEWTT | LPVCIVEEST | CGDIPELEHG | 
    750:
    WAQLSSPPYY | YGDSVEFNCS | ESFTMIGHRS | ITCIHGVWTQ | LPQCVAIDKL | 
    800:
    KKCKSSNLII | LEEHLKNKKE | FDHNSNIRYR | CRGKEGWIHT | VCINGRWDPE | 
    850:
    VNCSMAQIQL | CPPPPQIPNS | HNMTTTLNYR | DGEKVSVLCQ | ENYLIQEGEE | 
    900:
    ITCKDGRWQS | IPLCVEKIPC | SQPPQIEHGT | INSSRSSQES | YAHGTKLSYT | 
    950:
    CEGGFRISEE | NETTCYMGKW | SSPPQCEGLP | CKSPPEISHG | VVAHMSDSYQ | 
    1000:
    YGEEVTYKCF | EGFGIDGPAI | AKCLGEKWSH | PPSCIKTDCL | SLPSFENAIP | 
    1050:
    MGEKKDVYKA | GEQVTYTCAT | YYKMDGASNV | TCINSRWTGR | PTCRDTSCVN | 
    1100:
    PPTVQNAYIV | SRQMSKYPSG | ERVRYQCRSP | YEMFGDEEVM | CLNGNWTEPP | 
    1150:
    QCKDSTGKCG | PPPPIDNGDI | TSFPLSVYAP | ASSVEYQCQN | LYQLEGNKRI | 
    1200:
    TCRNGQWSEP | PKCLHPCVIS | REIMENYNIA | LRWTAKQKLY | SRTGESVEFV | 
    1231:
    CKRGYRLSSR | SHTLRTTCWD | GKLEYPTCAK | R
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    String:
    KEGG:
    UniGene:
    MIM:
    Pfam:
    SMR:
    Uniprot:
     
    FOR
    ELISA Kit for Human Complement factor H
    Cat.:
    E0635h
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    MSDS:
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    ELISA Kit for Human Complement factor H
    Cat.:
    E0635b
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    MSDS:
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    Packing:
    96T
    ELISA Kit for Human Complement factor H
    Cat.:
    E0635m
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    MSDS:
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    Packing:
    96T
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    CLIA Kit for Human Complement factor H
    Cat.:
    U0635h
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    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
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    CLIA Kit for Human Complement factor H
    Cat.:
    U0635b
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Complement factor H
    Cat.:
    U0635m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Polyclonal Antibody for Human Complement factor H
    Cat.:
    P0635Rb-h
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Complement factor H
    Cat.:
    P0635Rb-m
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Complement factor H
    Monoclonal Antibody for Human Complement factor H
    Monoclonal Antibody for Human Complement factor H
    Monoclonal Antibody for Human Complement factor H
    Protein for Human Complement factor H
    Protein for Human Complement factor H
    Protein for Human Complement factor H

    R&D Technical Data
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    Precision
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    Recovery
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    Linearity
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    Citations
    References
    1. 1.
      "The complete amino acid sequence of human complement factor H."
      Ripoche J. , Day A.J. , Harris T.J.R. , Sim R.B.
      Biochem. J.249:593-602(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] (ISOFORMS 1 AND 2);GLYCOSYLATION AT ASN-529;VARIANTS HIS-402 AND ARG-493
      tissue: Liver.
    2. 2.
      SeattleSNPs variation discovery resource
      Submitted (2005-10) to the EMBL/GenBank/DDBJ databases
      [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 ILE-62; THR-551; ILE-890; ASP-936; ILE-1007; ILE-1017; TYR-1050 AND THR-1059
    3. 3.
      "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G. , Barlow K.F. , McLay K.E. , Kaul R. , Swarbreck D. , Dunham A. , Scott C.E. , Howe K.L. , Woodfine K. , Spencer C.C.A. , Jones M.C. , Gillson C. , Searle S. , Zhou Y. , Kokocinski F. , McDonald L. , Evans R. , Phillips K. , more...
      Nature441:315-321(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: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA];VARIANT HIS-402
    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] (ISOFORMS 1 AND 2);VARIANT ILE-62
      tissue: Testis.
      tissue: Urinary bladder.
    5. 5.
      "Human complement factor H: isolation of cDNA clones and partial cDNA sequence of the 38-kDa tryptic fragment containing the binding site for C3b."
      Schulz T.F. , Schwaeble W. , Stanley K.K. , Weiss E. , Dierich M.P.
      Eur. J. Immunol.16:1351-1355(1986) [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 53-445
    6. 6.
      "Structural analysis of human complement protein H: homology with C4b binding protein, beta 2-glycoprotein I, and the Ba fragment of B2."
      Kristensen T. , Wetsel R.A. , Tack B.F.
      J. Immunol.136:3407-3411(1986) [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 226-449;PROTEIN SEQUENCE OF 205-216; 237-246; 320-331; 425-435; 508-518; 645-662; 667-717; 858-885; 907-972; 1163-1182 AND 1193-1203
    7. 7.
      "Cloning of the 1.4-kb mRNA species of human complement factor H reveals a novel member of the short consensus repeat family related to the carboxy terminal of the classical 150-kDa molecule."
      Estaller C. , Koistinen V. , Schwaeble W. , Dierich M.P. , Weiss E.H.
      J. Immunol.146:3190-3196(1991) [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 1047-1231
    8. 8.
      "Purification and structural studies on the complement-system control protein beta 1H (Factor H)."
      Sim R.B. , Discipio R.G.
      Biochem. J.205:285-293(1982) [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: PROTEIN SEQUENCE OF 19-35
    9. 9.
      Vik D.P. , Williams S.A.
      Submitted (1996-04) to the EMBL/GenBank/DDBJ databases
      [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] OF 1-19
    10. 10.
      [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] OF 1-9
    11. 11.
      "Screening for N-glycosylated proteins by liquid chromatography mass spectrometry."
      Bunkenborg J. , Pilch B.J. , Podtelejnikov A.V. , Wisniewski J.R.
      Proteomics4:454-465(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: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-882
      tissue: Plasma.
    12. 12.
      "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
      Liu T. , Qian W.-J. , Gritsenko M.A. , Camp D.G. II , Monroe M.E. , Moore R.J. , Smith R.D.
      J. Proteome Res.4:2070-2080(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: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-529 AND ASN-911
      tissue: Plasma.
    13. 13.
      "Site-specific N-glycan characterization of human complement factor H."
      Fenaille F. , Le Mignon M. , Groseil C. , Ramon C. , Riande S. , Siret L. , Bihoreau N.
      Glycobiology17:932-944(2007) [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: GLYCOSYLATION AT ASN-529; ASN-718; ASN-802; ASN-822; ASN-882; ASN-911; ASN-1029 AND ASN-1095
    14. 14.
      "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R. , Jiang X. , Sun D. , Han G. , Wang F. , Ye M. , Wang L. , Zou H.
      J. Proteome Res.8:651-661(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: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-529; ASN-802; ASN-882; ASN-911 AND ASN-1029
      tissue: Liver.
    15. 15.
      "A strategy for precise and large scale identification of core fucosylated glycoproteins."
      Jia W. , Lu Z. , Fu Y. , Wang H.P. , Wang L.H. , Chi H. , Yuan Z.F. , Zheng Z.B. , Song L.N. , Han H.H. , Liang Y.M. , Wang J.L. , Cai Y. , Zhang Y.K. , Deng Y.L. , Ying W.T. , He S.M. , Qian X.H.
      Mol. Cell. Proteomics8:913-923(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: GLYCOSYLATION AT ASN-217; ASN-882; ASN-911 AND ASN-1029
    16. 16.
      "Enrichment of glycopeptides for glycan structure and attachment site identification."
      Nilsson J. , Rueetschi U. , Halim A. , Hesse C. , Carlsohn E. , Brinkmalm G. , Larson G.
      Nat. Methods6:809-811(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: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-882;STRUCTURE OF CARBOHYDRATES
      tissue: Cerebrospinal fluid.
    17. 17.
      "Three-dimensional structure of a complement control protein module in solution."
      Norman D.G. , Barlow P.N. , Baron M. , Day A.J. , Sim B. , Campbell I.D.
      J. Mol. Biol.219:717-725(1991) [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: STRUCTURE BY NMR OF 927-985 (SUSHI 16)
    18. 18.
      "Solution structure of the fifth repeat of factor H: a second example of the complement control protein module."
      Barlow P.N. , Norman D.G. , Steinkasserer A. , Horne T.J. , Pearce J. , Driscoll P.C. , Sim B. , Campbell I.D.
      Biochemistry31:3626-3634(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: STRUCTURE BY NMR OF 264-322 (SUSHI 5)
    19. 19.
      "Solution structure of a pair of complement modules by nuclear magnetic resonance."
      Barlow P.N. , Steinkasserer A. , Norman D.G. , Kieffer B. , Wiles A.P. , Sim B. , Campbell I.D.
      J. Mol. Biol.232:268-284(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: STRUCTURE BY NMR OF 866-985 (SUSHIS 15 AND 16)
    20. 20.
      "Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism."
      Ault B.H. , Schmidt B.Z. , Fowler N.L. , Kashtan C.E. , Ahmed A.E. , Vogt B.A. , Colten H.R.
      J. Biol. Chem.272:25168-25175(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 CFHD ARG-536 AND TYR-959
    21. 21.
      "Genetic studies into inherited and sporadic hemolytic uremic syndrome."
      Warwicker P. , Goodship T.H.J. , Donne R.L. , Pirson Y. , Nicholls A. , Ward R.M. , Turnpenny P. , Goodship J.A.
      Kidney Int.53:836-844(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 AHUS1 GLY-1215
    22. 22.
      "Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome."
      Ying L. , Katz Y. , Schlesinger M. , Carmi R. , Shalev H. , Haider N. , Beck G. , Sheffield V.C. , Landau D.
      Am. J. Hum. Genet.65:1538-1546(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 AHUS1 LEU-1191
    23. 23.
      "Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome."
      Buddles M.R.H. , Donne R.L. , Richards A. , Goodship J. , Goodship T.H.J.
      Am. J. Hum. Genet.66:1721-1722(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 AHUS1 1225-TYR--ARG-1231 DELINS PHE-GLN-SER
    24. 24.
      "Molecular basis for factor H and FHL-1 deficiency in an Italian family."
      Sanchez-Corral P. , Bellavia D. , Amico L. , Brai M. , Rodriguez de Cordoba S.
      Immunogenetics51:366-369(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: INVOLVEMENT IN CFHD
    25. 25.
      "Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome."
      Perez-Caballero D. , Gonzalez-Rubio C. , Gallardo M.E. , Vera M. , Lopez-Trascasa M. , Rodriguez de Cordoba S. , Sanchez-Corral P.
      Am. J. Hum. Genet.68:478-484(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: VARIANTS CFHD MET-956; LEU-1183; ARG-1189 AND ALA-1197
    26. 26.
      "Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition."
      Richards A. , Buddles M.R. , Donne R.L. , Kaplan B.S. , Kirk E. , Venning M.C. , Tielemans C.L. , Goodship J.A. , Goodship T.H.J.
      Am. J. Hum. Genet.68:485-490(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: VARIANTS CFHD GLU-1076; GLY-1119 AND ARG-1184
    27. 27.
      "The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20."
      Italian registry of familial and recurrent HUS/TTP , Caprioli J. , Bettinaglio P. , Zipfel P.F. , Amadei B. , Daina E. , Gamba S. , Skerka C. , Marziliano N. , Remuzzi G. , Noris M.
      J. Am. Soc. Nephrol.12:297-307(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: VARIANTS CFHD CYS-1210 AND GLN-1215
    28. 28.
      "Molecular modelling of the C-terminal domains of factor H of human complement: a correlation between haemolytic uraemic syndrome and a predicted heparin binding site."
      Perkins S.J. , Goodship T.H.J.
      J. Mol. Biol.316:217-224(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 AHUS1 MET-956; GLU-1076; GLY-1119; LEU-1183; ARG-1184; ARG-1189; LEU-1191; ASP-1194; ALA-1197; CYS-1210; GLY-1215 AND GLN-1215
    29. 29.
      "Combined kidney and liver transplantation for familial haemolytic uraemic syndrome."
      Remuzzi G. , Ruggenenti P. , Codazzi D. , Noris M. , Caprioli J. , Locatelli G. , Gridelli B.
      Lancet359:1671-1672(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 CFHD ARG-1183
    30. 30.
      "Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease."
      International registry of recurrent and familial HUS/TTP , Caprioli J. , Castelletti F. , Bucchioni S. , Bettinaglio P. , Bresin E. , Pianetti G. , Gamba S. , Brioschi S. , Daina E. , Remuzzi G. , Noris M.
      Hum. Mol. Genet.12:3385-3395(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 AHUS1 GLY-78; HIS-950; HIS-951; TRP-1163 AND ALA-1198;VARIANT ASP-936
    31. 31.
      "Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries."
      Neumann H.P.H. , Salzmann M. , Bohnert-Iwan B. , Mannuelian T. , Skerka C. , Lenk D. , Bender B.U. , Cybulla M. , Riegler P. , Koenigsrainer A. , Neyer U. , Bock A. , Widmer U. , Male D.A. , Franke G. , Zipfel P.F.
      J. Med. Genet.40:676-681(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 AHUS1 TRP-630; LYS-850; CYS-978; PHE-1021; ARG-1043; GLY-1134; ASP-1142; ARG-1157; ARG-1183 AND SER-1226
    32. 32.
      "Heterozygous and homozygous factor H deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases."
      Dragon-Durey M.-A. , Fremeaux-Bacchi V. , Loirat C. , Blouin J. , Niaudet P. , Deschenes G. , Coppo P. , Herman Fridman W. , Weiss L.
      J. Am. Soc. Nephrol.15:787-795(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: VARIANTS CFHD LEU-127; SER-431 AND SER-673;VARIANTS AHUS1 LYS-400; TYR-673; ARG-893; SER-915; LEU-1183 AND SER-1199
    33. 33.
      "Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration."
      Zareparsi S. , Branham K.E.H. , Li M. , Shah S. , Klein R.J. , Ott J. , Hoh J. , Abecasis G.R. , Swaroop A.
      Am. J. Hum. Genet.77:149-153(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: VARIANT HIS-402
    34. 34.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ILE-62 AND HIS-402;ASSOCIATION WITH ARMD
    35. 35.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ASSOCIATION OF VARIANT HIS-402 WITH ARMD
    36. 36.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ASSOCIATION OF VARIANT HIS-402 WITH ARMD
    37. 37.
      "Complement factor H polymorphism and age-related macular degeneration."
      Edwards A.O. , Ritter R. III , Abel K.J. , Manning A. , Panhuysen C. , Farrer L.A.
      Science308:421-424(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: ASSOCIATION OF VARIANT HIS-402 WITH ARMD
    38. 38.
      "Deletion of Lys224 in regulatory domain 4 of factor H reveals a novel pathomechanism for dense deposit disease (MPGN II)."
      Licht C. , Heinen S. , Jozsi M. , Loeschmann I. , Saunders R.E. , Perkins S.J. , Waldherr R. , Skerka C. , Kirschfink M. , Hoppe B. , Zipfel P.F.
      Kidney Int.70:42-50(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: VARIANT CFHD LYS-224 DEL;CHARACTERIZATION OF VARIANT CFHD LYS-224 DEL
    39. 39.
      [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 BASAL LAMINAR DRUSEN;VARIANTS HIS-402; GLY-567; ASP-936; TYR-1050 AND SER-1078
    40. 40.
      "Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome."
      Maga T.K. , Nishimura C.J. , Weaver A.E. , Frees K.L. , Smith R.J.H.
      Hum. Mutat.31:E1445-E1460(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 AHUS1 TYR-325; ILE-609; LEU-1169 AND CYS-1183;VARIANT ASP-936
    41. 41.
      "Quantitative detection of single amino acid polymorphisms by targeted proteomics."
      Su Z.D. , Sun L. , Yu D.X. , Li R.X. , Li H.X. , Yu Z.J. , Sheng Q.H. , Lin X. , Zeng R. , Wu J.R.
      J. Mol. Cell Biol.3:309-315(2011) [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 ILE-62; LYS-850; TYR-959 AND GLU-1143;IDENTIFICATION BY MASS SPECTROMETRY
    42. 42.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ARMD4 CYS-1210
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