Publications:

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

Publication Date: 2021-12-02

Variant appearance in text: HR: 3551C>G; T1184R

PubMed Link: 34189567

Variant Present in the following documents:

• Main text

View BVdb publication page

Structural basis for engagement by complement factor H of C3b on a self surface.

Nature Structural & Molecular Biology

Morgan, Hugh P HP; Schmidt, Christoph Q CQ; Guariento, Mara M; Blaum, Bärbel S BS; Gillespie, Dominic D; Herbert, Andrew P AP; Kavanagh, David D; Mertens, Haydyn D T HD; Svergun, Dmitri I DI; Johansson, Conny M CM; Uhrín, Dušan D; Barlow, Paul N PN; Hannan, Jonathan P JP

Publication Date: 2011-04

Variant appearance in text: HR: T1184R

PubMed Link: 21317894

Variant Present in the following documents:

• NIHMS34061-supplement-1.pdf

View BVdb publication page