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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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| Veröffentlicht in: | Br J Haematol |
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| Hauptverfasser: | , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2019
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| Schlagworte: | |
| Online Zugang: | 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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