A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly

Bernard-Soulier syndrome (BSS) is an autosomal-recessive bleeding disorder caused by biallelic variants in the GP1BA, GP1BB, and GP9 genes encoding the subunits GPIbα, GPIbβ, and GPIX of the GPIb-IX complex. Pathogenic variants usually affect the extracellular or transmembrane domains of the recepto...

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Detalles Bibliográficos
Autores principales: Barozzi, Serena, Bozzi, Valeria, De Rocco, Daniela, Giangregorio, Tania, Noris, Patrizia, Savoia, Anna, Pecci, Alessandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8508601/
https://www.ncbi.nlm.nih.gov/pubmed/34638529
http://dx.doi.org/10.3390/ijms221910190

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8508601/
https://www.ncbi.nlm.nih.gov/pubmed/34638529
http://dx.doi.org/10.3390/ijms221910190

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