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

20 Sept 2018

Abstract excerpt

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 family members, coupled with whole-genome sequencing to reveal shared non-coding variants, revealed one potentially...

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PMID: 30247636
DOI: 10.1093/hmg/ddy334

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