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Clinical utility gene card for: familial erythrocytosis.

作者信息

Hussein Kais, Percy Melanie, McMullin Mary Frances

机构信息

Institute of Pathology, Hannover Medical School, Hannover, Germany.

出版信息

Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.252. Epub 2012 Jan 25.

Abstract
摘要

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本文引用的文献

1
Idiopathic erythrocytosis: a disappearing entity.
Hematology Am Soc Hematol Educ Program. 2009:629-35. doi: 10.1182/asheducation-2009.1.629.
2
Erythrocytosis associated with a novel missense mutation in the HIF2A gene.
Haematologica. 2010 May;95(5):829-32. doi: 10.3324/haematol.2009.017582. Epub 2009 Dec 8.
4
Clinical and hematological presentation of children and adolescents with polycythemia vera.
Ann Hematol. 2009 Aug;88(8):713-9. doi: 10.1007/s00277-009-0758-y. Epub 2009 May 26.
7
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.
N Engl J Med. 2008 Jan 10;358(2):162-8. doi: 10.1056/NEJMoa073123.
9
Familial polycythemia vera with non-germline JAK2(V617F) mutation sparing the abnormal and clonal granulopoiesis.
Leukemia. 2007 Dec;21(12):2566-8. doi: 10.1038/sj.leu.2404846. Epub 2007 Jul 12.
10
Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis.
Haematologica. 2007 May;92(5):674-7. doi: 10.3324/haematol.10787.

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