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HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case

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收录情况： ◇ SCIE

作者：

单位： [1]Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of TranslationalMedicine on Liver Cirrhosis, Beijing, China [2]Clinical Research Center for Rare Liver Diseases, Capital Medical University,Beijing, China [3]Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China [4]Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China [5]Institut NuMeCan, InsermU-1241, University of Rennes1, Rennes, France

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关键词： HFE compound heterozygosity hemochromatosis iron overload Chinese

摘要：

HFE-related Hemochromatosis is the most common genetic iron overload disease in European populations, particularly of Nordic or Celtic ancestry. It is reported that the HFE p.C282Y mutation is present in 1/10 people of northern European descent, resulting in one in two hundred people will be homozygous. However, the HFE p.C282Y heterozygosity is virtually absent among East Asians, including Japanese, Koreans, and Chinese. In this article, we report a case of HFE-related hemochromatosis caused by compound heterozygosity HFE p.C282Y/p.R71X. This is the first report of hemochromatosis associated with HFE p.C282Y mutation in China.

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出版当年[2019]版：

大类 | 2 区生物

小类 | 3 区遗传学

最新[2025]版：

大类 | 3 区生物学

小类 | 3 区遗传学

JCR分区：

出版当年[2018]版：

Q2 GENETICS & HEREDITY

最新[2023]版：

Q2 GENETICS & HEREDITY

影响因子： 最新[2023版] 2.8 最新五年平均[2021-2025] 3.3 出版当年[2018版] 3.517 出版当年五年平均[2014-2018] 0 出版前一年[2017版] 4.151 出版后一年[2019版] 3.26

第一作者：

第一作者单位： [1]Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of TranslationalMedicine on Liver Cirrhosis, Beijing, China [2]Clinical Research Center for Rare Liver Diseases, Capital Medical University,Beijing, China [3]Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China

通讯作者：

通讯机构： [1]Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of TranslationalMedicine on Liver Cirrhosis, Beijing, China [2]Clinical Research Center for Rare Liver Diseases, Capital Medical University,Beijing, China [3]Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China

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