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Volumn 221, Issue 10, 2016, Pages 1124-1130

Chromosomal rearrangement—A rare cause of complement factor I associated atypical haemolytic uraemic syndrome

Author keywords

Atypical haemolytic uraemic syndrome; Chromosomal rearrangement; Complement; Factor I; Genetic variants

Indexed keywords

COMPLEMENT; COMPLEMENT FACTOR I;

EID: 84971629645     PISSN: 01712985     EISSN: 18783279     Source Type: Journal    
DOI: 10.1016/j.imbio.2016.05.002     Document Type: Article
Times cited : (15)

References (20)
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    • 84936802263 scopus 로고    scopus 로고
    • Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels
    • Kavanagh, D., Yu, Y., Schramm, E.C., Triebwasser, M., Wagner, E.K., Raychaudhuri, S., Daly, M.J., Atkinson, J.P., Seddon, J.M., Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels. Hum. Mol. Genet. 24 (2015), 3861–3870.
    • (2015) Hum. Mol. Genet. , vol.24 , pp. 3861-3870
    • Kavanagh, D.1    Yu, Y.2    Schramm, E.C.3    Triebwasser, M.4    Wagner, E.K.5    Raychaudhuri, S.6    Daly, M.J.7    Atkinson, J.P.8    Seddon, J.M.9
  • 12
    • 77952682366 scopus 로고    scopus 로고
    • 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., Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Hum. Mutat. 31 (2010), E1445–E1460.
    • (2010) Hum. Mutat. , vol.31 , pp. E1445-E1460
    • Maga, T.K.1    Nishimura, C.J.2    Weaver, A.E.3    Frees, K.L.4    Smith, R.J.5
  • 14
    • 74249114451 scopus 로고    scopus 로고
    • Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I
    • Nilsson, S.C., Kalchishkova, N., Trouw, L.A., Fremeaux-Bacchi, V., Villoutreix, B.O., Blom, A.M., Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I. Eur. J. Immunol. 40 (2010), 172–185.
    • (2010) Eur. J. Immunol. , vol.40 , pp. 172-185
    • Nilsson, S.C.1    Kalchishkova, N.2    Trouw, L.A.3    Fremeaux-Bacchi, V.4    Villoutreix, B.O.5    Blom, A.M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.