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Article

Identification of a novel mutation in the factor XIII A subunit in a patient with inherited factor XIII deficiency.

International journal of hematology - 1 Jul 2023

Yan Lijie, Wang Tiantian, Qiu Jihua, Zhang Xinsheng, Peng Jun, Fang Yunhai, Sheng Zi

Abstract excerpt

Inherited factor XIII (FXIII) deficiency is an extremely rare and under-diagnosed autosomal recessive inherited coagulopathy, which is caused by genetic defects in the F13A1 or F13B gene. More than 200 genetic mutations have been identified since the first case of inherited FXIII deficiency was reported. This study aimed to identify underlying gene mutations in a patient with inherited FXIII deficiency who...

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PMID: 37059930
DOI: 10.1007/s12185-023-03594-y

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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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