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Extensive genetic screening of Iranian Factor FVII-deficient individuals unraveled several novel mutations and postulated founder effects in some cases

BACKGROUND: As the most frequent congenital rare bleeding disorder that transmits in an autosomal recessive manner, factor VII (FVII) deficiency is a serious bleeding complication in populations with high rate of in-marriages. While diagnosis mainly relies on clinical and laboratory phenotypes, plas...

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Detalles Bibliográficos
Autores principales: Ravanbod, Shirin, Faranoush, Mohammad, Changi-Ashtiani, Majid, Rokni-Zadeh, Hassan, Shahani, Tina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9903653/
https://www.ncbi.nlm.nih.gov/pubmed/36760778
http://dx.doi.org/10.1016/j.rpth.2022.100003