Case Report: Identification of a de novo Missense Mutation in the F8 Gene, p.(Phe690Leu)/c.2070C > A, Causing Hemophilia A: A Case Report

Hemophilia A is an X-linked recessive bleeding disorder caused by various types of pathological defects in the factor VIII gene (F8/FVIII). Preimplantation genetic testing for monogenic disease (PGT-M) is a powerful tool to tackle the transmission of monogenic inherited disorders from generation to...

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Detalles Bibliográficos
Autores principales: Bai, Haiyan, Xue, Xia, Tian, Li, Liu, Xi Tong, Li, Qian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7973284/
https://www.ncbi.nlm.nih.gov/pubmed/33747028
http://dx.doi.org/10.3389/fgene.2020.589899

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7973284/
https://www.ncbi.nlm.nih.gov/pubmed/33747028
http://dx.doi.org/10.3389/fgene.2020.589899

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