Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS.
Valoti, Elisabetta; Alberti, Marta; Iatropoulos, Paraskevas; Piras, Rossella; Mele, Caterina; Breno, Matteo; Cremaschi, Alessandra; Bresin, Elena; Donadelli, Roberta; Alizzi, Silvia; Amoroso, Antonio; Benigni, Ariela; Remuzzi, Giuseppe; Noris, Marina.
; 10: 853, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31118930
Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome.
Manifestation of atypical hemolytic uremic syndrome caused by novel mutations in MCP.
Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.
Genotype/phenotype correlations in complement factor H deficiency arising from uniparental isodisomy.
Defining the genetics of thrombotic microangiopathies.
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.