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Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients

BACKGROUND: Hemophilia A (HA) is an inherited X‐linked recessive coagulation disorder caused by factor VIII (F8) deficiency. F8 rearrangements involving intron 22 (int22) and intron 1 (int1) account for almost half of severe HA phenotype also a hotspot exon 14 provides numerous mutational patterns....

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Detalles Bibliográficos
Autores principales: Mosaad, Rehab M., Amr, Khalda S., Rabie, Eman A., Mostafa, Naglaa O., Habib, Sonia A., El‐Kamah, Ghada Y.
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/PMC8077131/
https://www.ncbi.nlm.nih.gov/pubmed/33342086
http://dx.doi.org/10.1002/mgg3.1575