The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark

BACKGROUND: The classic Bernard‐Soulier syndrome (BSS) is a rare inherited thrombocytopenia (IT) associated with severe thrombocytopenia, giant platelets, and bleeding tendency caused by homozygous or compound heterozygous variants in GP1BA, GP1BB, or GP9. Monoallelic BSS (mBSS) associated with mild...

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Detalles Bibliográficos
Autores principales: Leinøe, Eva, Brøns, Nanna, Rasmussen, Andreas Ørslev, Gabrielaite, Migle, Zaninetti, Carlo, Palankar, Raghavendra, Zetterberg, Eva, Rosthøj, Steen, Ostrowski, Sisse Rye, Rossing, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
PLATELETS
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9292710/
https://www.ncbi.nlm.nih.gov/pubmed/34333846
http://dx.doi.org/10.1111/jth.15479

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9292710/
https://www.ncbi.nlm.nih.gov/pubmed/34333846
http://dx.doi.org/10.1111/jth.15479

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