Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly

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 fami...

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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Hematology 2011
Témata:
Platelets and Thrombopoiesis
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3069679/
https://ncbi.nlm.nih.gov/pubmed/21263149
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2010-12-322990
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