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Article

A novel homozygous missense mutation (Met527Ile) in a consanguineous marriage family with inherited factor XII deficiency.

Hematology (Amsterdam, Netherlands) - 1 Dec 2020

Liu Meina, Wang Huanhuan, Lin Miaomiao, Jin Yanhui, Yang Lihong, Wang Mingshan

Abstract excerpt

OBJECTIVE: To identify potential mutations of the FXII gene (F12) in a consanguineous marriage family with hereditary coagulation factor XII (FXII) deficiency, and it will improve the understanding of the pathogenesis involved in the disease. CLINICAL PRESENTATION: The proband was a 58-year-old male who had chronic gastritis. He was found to have a significantly prolonged activated partial thromboplastin time...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33317433
DOI: 10.1080/16078454.2020.1859249

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