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The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance

机译：法国南部遗传性血色素沉着病登记：一种用于确定疾病的临床患病率和基因型外显率的工具

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摘要

BackgroundDespite great progress in understanding the mechanisms underlying genetic hemochromatosis, data on the prevalence and the penetrance of the disorder are conflicting.

机译：背景尽管在了解遗传性血色素沉着病发病机理方面取得了巨大进展，但该疾病的患病率和渗透率数据却相互矛盾。

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期刊名称 Haematologica
作者
Patricia Aguilar-Martinez; Michael Bismuth; François Blanc; Pierre Blanc; Severine Cunat; Olivier Dereure; Pierre Dujols; Muriel Giansily-Blaizot; Christian Jorgensen; Amadou Konate; Dominique Larrey; Alain Le Quellec; Thibault Mura; Isabelle Raingeard; Jeanne Ramos; Eric Renard; Florence Rousseau; Jean-François Schved; Marie-Christine Picot;
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年(卷),期 2010(95),4
年度 2010
页码 551–556
总页数 6
原文格式 PDF
正文语种
中图分类血液学检验;
关键词
registry HFE hemochromatosis prevalence penetrance;

机译：注册表;HFE血色素沉着症;患病率;外显率;

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专利

1. The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance | Haematologica [J] . Patricia Aguilar-Martinez, Michael Bismuth, Fran?ois Blanc, Haematologica . 2010,第4期

机译：法国南部遗传性血色素沉着病登记处：一种确定疾病临床流行率和基因型外显率的工具|血液学
2. Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network [J] . Gallego Carlos J., Burt Amber, Sundaresan Agnes S., The American Journal of Human Genetics . 2015,第4期

机译：在eMERGE网络中导致p.Cys282Tyr和p。[Cys282Tyr]; [His63Asp]的HFE基因型中血色素沉着的穿透性
3. Clinical events as a function of proton pump inhibitor use, clopidogrel use, and cytochrome P450 2C19 genotype in a large nationwide cohort of acute myocardial infarction: results from the French Registry of Acute ST-Elevation and Non-ST-Elevation Myocardial Infarction (FAST-MI) registry. [J] . Simon T, Steg PG, Gilard M, Circulation: An Official Journal of the American Heart Association . 2011,第5期

机译：在全国范围内的大量急性心肌梗死队列中，临床事件与质子泵抑制剂使用，氯吡格雷使用和细胞色素P450 2C19基因型的关系：法国急性ST抬高和非ST抬高心肌梗死（FAST- MI）注册表。
4. Carotenoid Analysis of Cassava Genotypes Roots (Manihot Esculenta Crantz) Cultivated in Southern Brazil Using Chemometric Tools [C] . Rodolfo Moresco, Virgílio G. Uarrota, Aline Pereira, International Conference on Practical Applications of Computational Biology and Bioinformatics . 2015

机译：南巴西南部栽培的木薯基因型根（Manihot Esculenta Crantz）的类胡萝卜素分析
5. Tools for genetic data management and strategies for optimized imputation of missing genotypes. [D] . Kuo, Fengshen. 2014

机译：遗传数据管理工具和优化估算缺失基因型的策略。
6. Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.Cys282Tyr;His63Asp in the eMERGE Network [O] . Carlos J. Gallego, Amber Burt, Agnes S. Sundaresan, 2015

机译：在eMERGE网络中导致p.Cys282Tyr和p。Cys282Tyr; His63Asp的HFE基因型中血色素沉着的穿透性
7. The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance [O] . Aguilar-Martinez, Patricia, Bismuth, Michael, Blanc, François, 2010

机译：法国南部遗传性血色素沉着病登记：一种用于确定疾病的临床患病率和基因型外显率的工具

The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance

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