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Article

A novel mutation in the FGB: c.1105C>T turns the codon for amino acid Bβ Q339 into a stop codon causing hypofibrinogenemia.

Blood cells, molecules & diseases - 1 Mar 2013

Marchi Rita, Brennan Stephen, Meyer Michael, Rojas Héctor, Kanzler Daniela, De Agrela Marisela, Ruiz-Saez Arlette

Abstract excerpt

Routine coagulation tests on a 14year-old male with frequent epistaxis showed a prolonged thrombin time together with diminished functional (162mg/dl) and gravimetric (122mg/dl) fibrinogen concentrations. His father showed similar aberrant results and sequencing of the three fibrinogen genes revealed a novel heterozygous nonsense mutation in the FGB gene c.1105C>T, which converts the codon for residue Bβ 339Q to...

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Source

Identifiers

PMID: 23266225
DOI: 10.1016/j.bcmd.2012.11.010

Genes

FGB
SDS

Variants

Provenance

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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A novel mutation in the FGB: c.1105C>T turns the codon for amino acid Bβ Q339 into a stop codon causing hypofibrinogenemia.PMID 23266225Read ↗

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