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: 974G>A

PubMed Link: 34189567

Variant Present in the following documents:

• Main text

View BVdb publication page

The regulatory subunit of PKA-I remains partially structured and undergoes β-aggregation upon thermal denaturation.

Plos One

Dao, Khanh K KK; Pey, Angel L AL; Gjerde, Anja Underhaug AU; Teigen, Knut K; Byeon, In-Ja L IJ; Døskeland, Stein O SO; Gronenborn, Angela M AM; Martinez, Aurora A

Publication Date: 2011-03-04

Variant appearance in text: HR: G325D

PubMed Link: 21394209

Variant Present in the following documents:

• Main text
• pone.0017602.pdf

View BVdb publication page