A novel mutation in GP1BA gene in a family with autosomal dominant Bernard Soulier syndrome variant: A case report

Classic Bernard-Soulier syndrome (BSS) is a rare form of autosomal recessive disorder that is caused by mutations in the GP1BA gene that encode the GPIb-V-IX complex, a receptor of von Willebrand factor. BSS characterized by macrothrombocytopenia and excessive bleeding. The present study reports a s...

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Detalles Bibliográficos
Autores principales: Ma, Jingyao, Chen, Zhenping, Li, Gang, Gu, Hao, Wu, Runhui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2021
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7903392/
https://www.ncbi.nlm.nih.gov/pubmed/33732333
http://dx.doi.org/10.3892/etm.2021.9791

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7903392/
https://www.ncbi.nlm.nih.gov/pubmed/33732333
http://dx.doi.org/10.3892/etm.2021.9791

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