Characterization of a Missense Mutation in the Catalytic Domain and a Splicing Mutation of Coagulation Factor X Compound Heterozygous in a Chinese Pedigree

Background: Congenital coagulation factor X (FX) deficiency is a rare bleeding disorder with an incidence of one in one million caused by mutations in the FX-coding gene(F10), leading to abnormal coagulation activity and a tendency for severe hemorrhage. Therefore, identifying mutations in FX is imp...

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Detalles Bibliográficos
Autores principales: Feng, Yuanzheng, Ma, Jiewen, Tang, Liang V, Lin, Wenyi, Tao, Yanyi, Cheng, Zhipeng, Hu, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535979/
https://www.ncbi.nlm.nih.gov/pubmed/34680916
http://dx.doi.org/10.3390/genes12101521

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535979/
https://www.ncbi.nlm.nih.gov/pubmed/34680916
http://dx.doi.org/10.3390/genes12101521

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