Clinical and genetic spectrum of factor XII deficiency in the Han population of East China

Clinical and genetic spectrum of factor XII deficiency in the Han population of East China

Abstract Background Factor XII (FXII or F12) deficiency is a rare inherited disorder, typically lacking haemorrhagic symptoms. There is limited literature exists on FXII deficiency and mutations within the Chinese population. This study aimed to characterize the spectrum of F12 gene mutations in a C...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Fei Xu, Langyi Qin, Anqing Zou, Lingling Hou, Mingshan Wang, Bile Chen
التنسيق: مقال
اللغة:English
منشور في: BMC 2024-10-01
سلاسل:Orphanet Journal of Rare Diseases
الموضوعات:
Hemorrhagic
Factor XII deficiency
F12 gene
Mutation
Thrombophilias
الوصول للمادة أونلاين:https://doi.org/10.1186/s13023-024-03404-6

الانترنت

https://doi.org/10.1186/s13023-024-03404-6

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