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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...
Autores principales: | Li, Shaoying, He, Jianchun, Chu, Liming, Ren, Shuai, He, Wenzhi, Ma, Xiaoyan, Wang, Yanchao, Zhang, Mincong, Kong, Lingyin, Liang, Bo, Li, Qing |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
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 |
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