1 document found, page 1 of 1
Sort by
Issue Date
Wide spectrum of F9 variants in hemophilia B families from the Portuguese popul...
Moreira, Isabel; Diniz, Maria João; Tavares, Alice; Morais, Sara; Freitas, B.; Araújo, F.; Gago, T.; Antunes, EM; Catarino, C.; Campos, M.; Almeida, T.Introduction: Hemophilia B is an X-linked bleeding disorder caused by molecular defects in the Factor IX gene (F9), leading to either deficiency or functional abnormality of Factor IX. Actual data indicate a high heterogeneity of variants in F9. Over 1000 different variants have been reported, including pathogenic single nucleotide variants (SNPs), indels and complex variants. Materials and Methods: 86 index pa...
Date: 2021
|
Origin: Repositório Científico do Instituto Nacional de Saúde