Case Report: Allelic and biallelic variants in coagulation factor XI cause factor XI deficiency

Case Report: Allelic and biallelic variants in coagulation factor XI cause factor XI deficiency

Factor XI deficiency is a rare inherited coagulation disorder with an estimated prevalence of affecting 1 in 1 million. It is characterized by mild and variable bleeding phenotypes, including bruises, nosebleeds, hematuria, and postpartum hemorrhage. It can be caused by either allelic or biallelic v...

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Bibliographic Details
Main Authors: Chen Liang, Jie-Yuan Jin, Hai-Hong Shi, Hao-Xian Li, Lin-Lin Chen, Yang-Hui Zhang, Qin Wang, Qiu-Li Li, Rui-Man Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-11-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
Factor XI deficiency
hemophilia
coagulation factor XI
variant characteristic
missense variant
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2024.1461899/full

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https://www.frontiersin.org/articles/10.3389/fcvm.2024.1461899/full

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