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An intronic mutation c.6430-3C>G in the F8 gene causes splicing efficiency and premature termination in hemophilia A
Hemophilia A is a bleeding disorder caused by coagulation factor VIII protein deficiency or dysfunction, which is classified into severe, moderate, and mild according to factor clotting activity. An overwhelming majority of missense and nonsense mutations occur in exons of F8 gene, whereas mutations...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams And Wilkins
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5965921/ https://www.ncbi.nlm.nih.gov/pubmed/29652675 http://dx.doi.org/10.1097/MBC.0000000000000730 |