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

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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Bibliographic Details
Main Authors:	Haiyan Bai, Xia Xue, Li Tian, Xi Tong Liu, Qian Li
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2021-03-01
Series:	Frontiers in Genetics
Subjects:	hemophilia A preimplantation genetic testing for monogenic disease p.(Phe690Leu)/c.2070C > A next-generation sequencing chromosome copy number variation single nucleotide polymorphism
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2020.589899/full

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