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Defining the molecular pathology and consequent phenotypes in Egyptian HB patients

BACKGROUND: Hemophilia B (HB) (also known as Christmas disease) is a rare X-linked recessive disorder characterized by spontaneous or prolonged hemorrhages caused by mutations in Factor 9 (F9) gene leading to deficient or defective coagulation F9. Our study aimed at identifying the causative mutatio...

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Detalles Bibliográficos
Autores principales: El-Kamah, Ghada Y., Mosaad, Rehab M., Taher, Mohamed B., Amr, Khalda S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8128942/
https://www.ncbi.nlm.nih.gov/pubmed/33999344
http://dx.doi.org/10.1186/s43141-021-00165-8