Congenital hypofibrinogenemia with bleeding risk: mutations in the <i>FGA, FGB</i> , and <i>FGG</i> genes
The c.959-16_959-13delTTTG deletion is the main cause of congenital hypofibrinogenemia in this family. The γTyr13His heterozygous mutation may have a minor impact on the structure and function of the fibrinogen molecule. The Bβ(Ser189=, Tyr375=, Arg478Lys) and AαThr331Ala mutations may have a certain impact on the proband's clinical phenotype.
Authors
- Liqun Xiang
- Weijie Zhou (ORCID: https://orcid.org/0000-0002-0021-9454)
- Lin Liao (ORCID: https://orcid.org/0000-0003-3492-321X)
- Faquan Lin (ORCID: https://orcid.org/0000-0002-8631-4339)
- Min Chen (ORCID: https://orcid.org/0000-0002-0960-4447)
- Meiling Luo
- Yangyang Wu (ORCID: https://orcid.org/0009-0007-1814-5100)
- Jie Yan (ORCID: https://orcid.org/0000-0001-6096-0263)
- Xinyan Chen (ORCID: https://orcid.org/0000-0001-5757-189X)
- Kaili Qin (ORCID: https://orcid.org/0000-0001-9575-9279)
Institutions
- First Affiliated Hospital of GuangXi Medical University (CN)
- Baise University (CN)
Publication Details
- Journal
- Laboratory Medicine
- Published
- 2025-06-16
- DOI
- https://doi.org/10.1093/labmed/lmaf042
- Primary Topic
- Blood properties and coagulation
- Type
- article
- Field-Weighted Citation Impact
- 0.00