Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.
Osborne, Amy J; Breno, Matteo; Borsa, Nicolo Ghiringhelli; Bu, Fengxiao; Frémeaux-Bacchi, Véronique; Gale, Daniel P; van den Heuvel, Lambertus P; Kavanagh, David; Noris, Marina; Pinto, Sheila; Rallapalli, Pavithra M; Remuzzi, Giuseppe; Rodríguez de Cordoba, Santiago; Ruiz, Angela; Smith, Richard J H; Vieira-Martins, Paula; Volokhina, Elena; Wilson, Valerie; Goodship, Timothy H J; Perkins, Stephen J.
; 200(7): 2464-2478, 2018 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-29500241
A novel CFHR1-CFHR5 hybrid leads to a familial dominant C3 glomerulopathy.
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aHUS associated with C3 gene mutation: a case with numerous relapses and favorable 20-year outcome.
Disease Recurrence After Early Discontinuation of Eculizumab in a Patient With Atypical Hemolytic Uremic Syndrome With Complement C3 I1157T Mutation.