H63D genotying for hemochromatosis: helper or hindrance?
作者信息
Adams Paul C
出版信息
Can J Gastroenterol Hepatol. 2014 Apr;28(4):179-80. doi: 10.1155/2014/938025.
Abstract
摘要
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H63D genotying for hemochromatosis: helper or hindrance?血色素沉着症的H63D基因分型：辅助还是阻碍？
Can J Gastroenterol Hepatol. 2014 Apr;28(4):179-80. doi: 10.1155/2014/938025.
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本文引用的文献
1
Iron overload is rare in patients homozygous for the H63D mutation.铁过载在 H63D 突变纯合子患者中较为罕见。
Can J Gastroenterol Hepatol. 2014 Apr;28(4):198-202. doi: 10.1155/2014/468521.
2
Effect of ambiguous hemochromatosis gene test results on physician utilization.不明原因血色素沉着症基因检测结果对医生利用率的影响。
Med Care. 2012 May;50(5):394-8. doi: 10.1097/MLR.0b013e318245a06e.
3
The natural history of untreated HFE-related hemochromatosis.未经治疗的HFE相关血色素沉着症的自然病史。
Acta Haematol. 2009;122(2-3):134-9. doi: 10.1159/000243797. Epub 2009 Nov 10.
4
HFE C282Y homozygotes have reduced low-density lipoprotein cholesterol: the Atherosclerosis Risk in Communities (ARIC) Study.HFE C282Y纯合子的低密度脂蛋白胆固醇水平降低：社区动脉粥样硬化风险（ARIC）研究。
Transl Res. 2008 Jul;152(1):3-10. doi: 10.1016/j.trsl.2008.05.005. Epub 2008 Jun 13.
5
Genetic screening for iron overload: No evidence of discrimination at 1 year.铁过载的基因筛查：1年内无歧视证据。
J Fam Pract. 2007 Oct;56(10):829-34.
6
Hemochromatosis and iron-overload screening in a racially diverse population.不同种族人群中的血色素沉着症和铁过载筛查
N Engl J Med. 2005 Apr 28;352(17):1769-78. doi: 10.1056/NEJMoa041534.
7
Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells.遗传性血色素沉着症：C282Y和H63D突变对与β2-微球蛋白的关联、细胞内加工以及HFE蛋白在COS-7细胞中的细胞表面表达的影响。
Proc Natl Acad Sci U S A. 1997 Nov 11;94(23):12384-9. doi: 10.1073/pnas.94.23.12384.
8
The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.
J Biol Chem. 1997 May 30;272(22):14025-8. doi: 10.1074/jbc.272.22.14025.
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