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Article

A Novel Mutation in the Fibrinogen Bβ Chain (c.490G>A; End of Exon 3) Causes a Splicing Abnormality and Ultimately Leads to Congenital Hypofibrinogenemia.

International journal of molecular sciences - 20 Nov 2017

Taira Chiaki, Matsuda Kazuyuki, Arai Shinpei, Sugano Mitsutoshi, Uehara Takeshi, Okumura Nobuo

Abstract excerpt

We found a novel heterozygous mutation in the fibrinogen Bβ chain (c.490G>A) of a 3-year-old girl with congenital hypofibrinogenemia. To clarify the complex genetic mechanism, we made a mini-gene including a FGB c.490G>A mutation region, transfected it into a Chinese Hamster Ovary (CHO) cell line, and analyzed reverse transcription (RT) products. The assembly process and secretion were examined using recombinant...

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Identifiers

PMID: 29156616
DOI: 10.3390/ijms18112470
PMCID: PMC5713436

Genes

FGB

Variants

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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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