Novel Compound Heterozygous Mutations in Two Families With Bernard–Soulier Syndrome

Background: Bernard–Soulier Syndrome (BSS) is a rare autosomal recessive bleeding disorder with large platelets and thrombocytopenia. It is caused by homozygous or compound heterozygous mutations in the GP1BA, GP1BB, or GP9 genes, which together encode the platelet surface receptor glycoprotein comp...

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Detalles Bibliográficos
Autores principales: Minkov, Milen, Zeitlhofer, Petra, Zoubek, Andreas, Kager, Leo, Panzer, Simon, Haas, Oskar A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7864212/
https://www.ncbi.nlm.nih.gov/pubmed/33553065
http://dx.doi.org/10.3389/fped.2020.589812

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