Platelet proteome and function in X−linked thrombocytopenia with thalassemia and in silico comparisons with gray platelet syndrome

In X-linked thrombocytopenia with thalassemia (XLTT; OMIM 314050), caused by the mutation p.R216Q in exon 4 of the GATA1 gene, male hemizygous patients display macrothrombocytopenia, bleeding diathesis and a b-thalassemia trait. Herein, we describe findings in two unrelated Swedish XLTT families wit...

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Detalles Bibliográficos
Autores principales: Bergemalm, Daniel, Ramström, Sofia, Kardeby, Caroline, Hultenby, Kjell, Eremo, Anna Göthlin, Sihlbom, Carina, Bergström, Jörgen, Palmblad, Jan, Åström, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Fondazione Ferrata Storti 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8561286/
https://www.ncbi.nlm.nih.gov/pubmed/33054111
http://dx.doi.org/10.3324/haematol.2020.249805

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8561286/
https://www.ncbi.nlm.nih.gov/pubmed/33054111
http://dx.doi.org/10.3324/haematol.2020.249805

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