Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension

被引:42
作者
Bond, Jonathan [1 ,2 ]
Gale, Daniel P. [3 ,4 ]
Connor, Thomas [3 ]
Adams, Stuart
de Boer, Jasper [5 ]
Gascoyne, Duncan M. [5 ,6 ]
Williams, Owen [5 ]
Maxwell, Patrick H. [3 ]
Ancliff, Philip J. [5 ]
机构
[1] Univ London Imperial Coll Sci Technol & Med, MRC Clin Sci Ctr, London W12 0NN, England
[2] UCL, Great Ormond St Hosp Children, Mol Haematol & Canc Biol Unit, Inst Child Hlth,Dept Haematol, London, England
[3] UCL, Rayne Inst, Div Med, London, England
[4] Univ London Imperial Coll Sci Technol & Med, Kidney & Transplant Unit, London W12 0NN, England
[5] UCL, Inst Child Hlth, Mol Haematol & Canc Biol Unit, London, England
[6] Univ Oxford, Nuffield Dept Clin Lab Sci, Oxford, England
基金
英国医学研究理事会;
关键词
CHUVASH POLYCYTHEMIA; OXYGEN HOMEOSTASIS;
D O I
10.1182/blood-2010-12-327569
中图分类号
R5 [内科学];
学科分类号
100201 [内科学];
摘要
引用
收藏
页码:3699 / 3701
页数:5
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