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Article

Identification of a novel splicing mutation in the fibrinogen gamma chain gene leading to dysfibrinogenaemia in a Chinese pedigree.

Pathology - 1 Feb 2015

Huang Dandan, Chen Huayun, Hu Xiaobo, Wang Xuefeng, Wang Hongli

Abstract excerpt

Congenital dysfibrinogenaemia is a rare disease characterised by inherited abnormality in the fibrinogen molecule, leading to functional defects. In this study, we investigated the molecular basis of dysfibrinogenaemia in a Chinese pedigree. Functional fibrinogen of venous blood samples was measured by Clauss method, and the antigens of fibrinogen in plasma were measured by immunoturbidimetry assay. All the exons...

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Source

Identifiers

PMID: 25551304
DOI: 10.1097/PAT.0000000000000213

Genes

FGG

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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