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Congenital factor XI deficiency caused by a novel F11 missense variant: a case report

Hereditary factor XI (FXI) deficiency is a mild bleeding disorder, rare in the general population but relatively common among Ashkenazi Jews. The human F11 gene comprises 15 exons, spanning over 23 kb of the long arm of chromosome 4 (4q35). Homozygotes or compound heterozygotes typically show severe...

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Detalles Bibliográficos
Autores principales: Gotovac Jerčić, Kristina, Blažeković, Antonela, Hančević, Mirea, Bilić, Ervina, Borovečki, Fran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Croatian Medical Schools 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063557/
https://www.ncbi.nlm.nih.gov/pubmed/32118380
http://dx.doi.org/10.3325/cmj.2020.61.62