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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
D.A. Spandidos
2021
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| Materias: | |
| 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 |