Article
Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly.
Blood - 24 Mar 2011
Fabbro Shay, Kahr Walter H A, Hinckley Jesse, Wang Kai, Moseley Jack, Ryu Gi-Yung, Nixon Brie, White James G, Bair Thomas, Schutte Brian, Di Paola Jorge
Abstract excerpt
Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by thrombocytopenia and the absence of α-granules in platelets. Patients with GPS present with mild to moderate bleeding and many develop myelofibrosis. The genetic cause of GPS is unknown. We present 2 Native American families with a total of 5 affected persons and a single affected patient of Pakistani origin in which GPS appears to be...
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