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Article

Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency.

BMC medical genetics - 8 Jan 2020

Deng Jun, Li Dan, Mei Heng, Tang Liang, Wang Hua-Fang, Hu Yu

Abstract excerpt

BACKGROUND: Coagulation factor XIII (FXIII) plays an essential role in maintaining hemostasis by crosslinking fibrin. Deficiency in FXIII affects clot stability and increases the risk of severe bleeding. Congenital FXIII deficiency is a rare disease. Recently, we identified a Chinese family with FXIII deficiency and investigated the pathogenesis of congenital FXIII deficiency, contributing non-coding pathogenic...

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Identifiers

PMID: 31914974
DOI: 10.1186/s12881-019-0944-2
PMCID: PMC6950900

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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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