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Article

X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation

5 Jan 2007

Abstract excerpt

We identified a family with gray platelet syndrome (GPS) segregating as a sex-linked trait. Affected males had a mild bleeding disorder, thrombocytopenia, and large agranular platelets characteristic of GPS, while obligate carrier females were asymptomatic but had dimorphic platelets on peripheral smear. Associated findings included mild erythrocyte abnormalities in affected males. Linkage analysis revealed a 63...

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PMID: 17209061
DOI: 10.1182/blood-2006-02-004101

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