Molecular Genetic Analysis of Russian Patients with Coagulation Factor FVII Deficiency.

ABSTRACT: Coagulation factor VII (proconvertin) is one of the proteins starting the blood coagulation cascade. Plasma FVII concentration is regulated by different factors. A low level of FVII could also be a result of FVII deficiency (MIM# 227500), the rare autosomal recessive inherited disease caused by pathogenic variants in the F7 gene. The aim of this study was to describe a mutation spectrum of the F7 gene and genotype-phenotype relationship in patients with FVII deficiency in Russia for the first time. We studied the primary structure of the F7 gene of 54 unrelated patients with FVII deficiency by direct Sanger sequencing. Pathogenic variants in the F7 gene were detected in 37 (68.5%) of them. We identified 24 different mutations located mostly in the serine proteas

SUBMITTER: Pshenichnikova O 

PROVIDER: S-EPMC10531009 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature