Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE)

Severe thrombocytopenia, characterized by dysplastic megakaryocytes and intracranial bleeding, was diagnosed in six individuals from a consanguineous kindred. Three of the individuals were successfully treated by bone marrow transplant. Whole-exome sequencing and homozygosity mapping of multiple fam...

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Bibliografiska uppgifter
I publikationen:Hum Mol Genet
Huvudupphovsmän: Seo, Aaron, Gulsuner, Suleyman, Pierce, Sarah, Ben-Harosh, Miri, Shalev, Hanna, Walsh, Tom, Krasnov, Tanya, Dgany, Orly, Doulatov, Sergei, Tamary, Hannah, Shimamura, Akiko, King, Mary-Claire
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2019
Ämnen:
General Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6298239/
https://ncbi.nlm.nih.gov/pubmed/30247636
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy334
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