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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2021
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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 |