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Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China

BACKGROUND: Haemophilia A (HA) is an X‐linked bleeding disorder caused by mutations in the coagulation factor Ⅷ (F8) gene. Its incidence in men is estimated to be approximately 1/5000. OBJECTIVE: This study aimed to characterize the mutation spectrum of the F8 gene in 485 Chinese families, encompass...

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Detalles Bibliográficos
Autores principales: Feng, Yin, Li, Qianqian, Shi, Panlai, Liu, Ning, Kong, Xiangdong, Guo, Ruixia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7898705/
https://www.ncbi.nlm.nih.gov/pubmed/33245802
http://dx.doi.org/10.1111/hae.14206