Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.
Blood
Martín Merinero, Hector H; Zhang, Yuzhou Y; Arjona, Emilia E; Del Angel, Guillermo G; Goodfellow, Renee R; Gomez-Rubio, Elena E; Ji, Rui-Ru RR; Michelena, Malkoa M; Smith, Richard J H RJH; Rodríguez de Córdoba, Santiago S
Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.
Journal Of Immunology (Baltimore, Md. : 1950)
Osborne, Amy J AJ; Breno, Matteo M; Borsa, Nicolo Ghiringhelli NG; Bu, Fengxiao F; Frémeaux-Bacchi, Véronique V; Gale, Daniel P DP; van den Heuvel, Lambertus P LP; Kavanagh, David D; Noris, Marina M; Pinto, Sheila S; Rallapalli, Pavithra M PM; Remuzzi, Giuseppe G; Rodríguez de Cordoba, Santiago S; Ruiz, Angela A; Smith, Richard J H RJH; Vieira-Martins, Paula P; Volokhina, Elena E; Wilson, Valerie V; Goodship, Timothy H J THJ; Perkins, Stephen J SJ