Cargando…
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: | 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 |
Ejemplares similares
-
Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients
por: Mosaad, Rehab M., et al.
Publicado: (2020) -
Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients
por: Sokkar, Mona F., et al.
Publicado: (2023) -
Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families
por: El-Kamah, Ghada Y., et al.
Publicado: (2023) -
Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine‐responsive megaloblastic anemia in an Egyptian family
por: Amr, Khalda, et al.
Publicado: (2019) -
Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity
por: Rabie, Eman A., et al.
Publicado: (2022)