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Article

Novel fibrinogen mutation γ314Thr→Pro (fibrinogen AI duPont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia.

Liver international : official journal of the International Association for the Study of the Liver - 1 Nov 2010

Brennan Stephen O, Davis Ryan L, Conard Katrina, Savo Anthony, Furuya Katryn N

Abstract excerpt

Mutation in fibrinogen genes may lead to quantitative or qualitative disorders that result in bleeding, thrombosis or hepatic fibrinogen storage disease. Only three mutations in the fibrinogen γ gene have been identified that cause hepatic endoplasmic reticulum storage of mutant fibrinogen. To in...

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Identifiers

PMID: 20666993
DOI: 10.1111/j.1478-3231.2010.02312.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20666993-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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