F8 gene inversion and duplication cause no obvious hemophilia A phenotype

Hemophilia A (HA, OMIM#306700) is an X-linked recessive bleeding disorder caused by the defects in the F8 gene, which encodes coagulation factor VIII (FVIII). Intron 22 inversion (Inv22) is found in about 45% of patients with severe hemophilia A. Here, we reported a male without obvious hemophilia A...

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Detalles Bibliográficos
Autores principales: Li, Shaoying, He, Jianchun, Chu, Liming, Ren, Shuai, He, Wenzhi, Ma, Xiaoyan, Wang, Yanchao, Zhang, Mincong, Kong, Lingyin, Liang, Bo, Li, Qing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9947239/
https://www.ncbi.nlm.nih.gov/pubmed/36845383
http://dx.doi.org/10.3389/fgene.2023.1098795

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9947239/
https://www.ncbi.nlm.nih.gov/pubmed/36845383
http://dx.doi.org/10.3389/fgene.2023.1098795

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