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Article

Factor XII deficiency: a clinical and molecular genetic study.

International journal of hematology - 1 May 2023

Demidova Ekaterina, Salomashkina Valentina, Pshenichnikova Olesya, Selivanova Daria, Yakovleva Elena, Zozulya Nadezda, Gorgidze Lana, Surin Vadim

Abstract excerpt

Factor XII deficiency is a rare inherited disorder caused by clotting factor XII (FXII, F12) deficiency. It is often asymptomatic but can have both thrombotic and haemorrhagic symptoms. The aim of this study was to describe the spectrum of F12 gene mutations in a Russian population and learn more about the relationship between F12 variants and clinical phenotypes. We obtained and analysed genetic and clinical...

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Identifiers

PMID: 36627437
DOI: 10.1007/s12185-023-03535-9

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