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Article

A novel F13A1 gene mutation (Arg208Pro) in a Chinese patient with factor XIII deficiency.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Sept 2022

Xie Haixiao, Wang Mingshan, Jin Yanhui, Li Xiaolong, Jiang Shuting, Yang Lihong

Abstract excerpt

The objective of the study was to analyse a novel F13A1 gene mutation in a Chinese patient with factor XIII (FXIII) deficiency and explore the molecular mechanism. Pedigree investigation, clinical diagnosis, phenotypic and genetic analysis were conducted. The F13A1 gene was amplified by PCR and directly sequenced. Online bioinformatics software was needed to analyse the mutation. A novel mutation c.515G>C...

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PMID: 35981255
DOI: 10.1097/MBC.0000000000001143

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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