Genome-Wide Linkage Analysis and Whole-Exome Sequencing Identifies an ITGA2B Mutation in a Family with Thrombocytopenia

Hereditary thrombocytopenias can be subclassified based on mode of inheritance and platelet size. Here we report a family with autosomal dominant (AD) thrombocytopenia with normal platelet size. Linkage analysis and whole exome sequencing identified the R1026W substitution in ITGA2B as the causative...

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Detalhes bibliográficos
Publicado no:Br J Haematol
Main Authors: Khoriaty, Rami, Ozel, Ayse Bilge, Ramdas, Shweta, Ross, Charles, Desch, Karl, Shavit, Jordan A., Everett, Lesley, Siemieniak, David, Li, Jun Z., Ginsburg, David
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6679728/
https://ncbi.nlm.nih.gov/pubmed/31119735
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/bjh.15961
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