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[Hemochromatosis].[血色素沉着症]
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6
[Genetic screening of hemochromatosis].[血色素沉着症的基因筛查]
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Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis.1型(HFE相关)遗传性血色素沉着症分子遗传学诊断的最佳实践指南。
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Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results.
Nat Genet. 1999 Nov;23(3):271-2. doi: 10.1038/15722.

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本文引用的文献

1
Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene.成人遗传性血色素沉着症,血色素沉着症基因无致病突变
N Engl J Med. 1999 Sep 2;341(10):725-32. doi: 10.1056/NEJM199909023411003.
2
A population-based study of the clinical expression of the hemochromatosis gene.一项基于人群的血色素沉着症基因临床表达研究。
N Engl J Med. 1999 Sep 2;341(10):718-24. doi: 10.1056/NEJM199909023411002.
3
Hereditary haemochromatosis: to screen or not. Conditions for screening are not yet fulfilled.遗传性血色素沉着症:筛查与否。筛查条件尚未满足。
BMJ. 1999 Aug 28;319(7209):531-2. doi: 10.1136/bmj.319.7209.531.
4
Population-based screening for hemochromatosis using phenotypic and DNA testing among employees of health maintenance organizations in Springfield, Missouri.在密苏里州斯普林菲尔德市健康维护组织的员工中,采用表型和DNA检测对血色素沉着症进行基于人群的筛查。
Am J Med. 1999 Jul;107(1):30-7. doi: 10.1016/s0002-9343(99)00163-1.
5
Screening blood donors for hereditary hemochromatosis: decision analysis model comparing genotyping to phenotyping.
Am J Gastroenterol. 1999 Jun;94(6):1593-600. doi: 10.1111/j.1572-0241.1999.1120_f.x.
6
Screening for hemochromatosis. A public health perspective.
Am J Prev Med. 1999 Feb;16(2):134-40. doi: 10.1016/s0749-3797(98)00141-x.
7
Phenotypic expression of HFE mutations: a French study of 1110 unrelated iron-overloaded patients and relatives.HFE基因突变的表型表达:一项针对1110名无亲缘关系的铁过载患者及其亲属的法国研究。
Gastroenterology. 1999 Feb;116(2):372-7. doi: 10.1016/s0016-5085(99)70134-4.
8
Molecular medicine and hemochromatosis: at the crossroads.分子医学与血色素沉着症:处于十字路口
Gastroenterology. 1999 Jan;116(1):193-207. doi: 10.1016/s0016-5085(99)70244-1.
9
Screening for hemochromatosis in primary care settings.
Ann Intern Med. 1998 Dec 1;129(11):962-70. doi: 10.7326/0003-4819-129-11_part_2-199812011-00007.
10
Prevalence of hereditary hemochromatosis in 16031 primary care patients.16031名初级保健患者中遗传性血色素沉着症的患病率
Ann Intern Med. 1998 Dec 1;129(11):954-61. doi: 10.7326/0003-4819-129-11_part_2-199812011-00006.

Population screening for haemochromatosis.

作者信息

Adams P C

机构信息

Department of Medicine London Health Sciences Centre 339 Windermere Road London, Ontario, Canada.

出版信息

Gut. 2000 Mar;46(3):301-3. doi: 10.1136/gut.46.3.301.

DOI:10.1136/gut.46.3.301
PMID:10673284
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1727866/
Abstract
摘要