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

Genes - 6 Sept 2023

Pshenichnikova Olesya, Selivanova Daria, Shchemeleva Ekaterina, Abramova Tatiana, Zozulya Nadezhda, Surin Vadim

Abstract excerpt

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...

Topics

Humans
Alleles
Genotype
Russia
Blood Coagulation Factors
Molecular Biology

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 37761907
DOI: 10.3390/genes14091767
PMCID: PMC10531009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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