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A Novel Fibrinogen Mutation p.BβAla68Asp Causes an Inherited Dysfibrinogenemia.

Hamostaseologie - 1 Dec 2023

Jia Kaiqi, Zeng Manlin, Zheng Xiaoyong, Xie Haixiao, Yang Lihong, Xie Yaosheng, Wang Mingshan

Abstract excerpt

OBJECTIVE: Our study aimed to analyze the phenotype and genotype of a pedigree with inherited dysfibrinogenemia, and preliminarily elucidate the probable pathogenesis. METHODS: The one-stage clotting method was used to test the fibrinogen activity (FIB:C), whereas immunoturbidimetry was performed to quantify the fibrinogen antigen (FIB:Ag). Furthermore, DNA sequence analysis was conducted to confirm the site of...

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PMID: 37516116
DOI: 10.1055/a-2116-8957

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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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