A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis

Author:

Delatycki MB,Allen KJ,Gow P,MacFarlane J,Radomski C,Thompson J,Hayden MR,Goldberg YP,Samuels ME

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference12 articles.

1. Juvenile and adult hemochromatosis are distinct genetic disorders;Camaschella;Eur J Hum Genet,1997

2. Juvenile hemochromatosis locus maps to chromosome 1q;Roetto;Am J Hum Genet,1999

3. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis;Papanikolaou;Nat Genet,2003

4. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis;Roetto;Nat Genet,2003

5. LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity;Krause;FEBS Lett,2000

Cited by 49 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. A novel hepcidin mutation;Transfusion Clinique et Biologique;2023-08

2. Serum Hepcidin Hormone Level and Its Genes Polymorphism;Genetic Variation;2021-05-19

3. Ethnic Differences in Iron Status;Advances in Nutrition;2021-04-30

4. Importance of Iron Absorption in Human Health: An Overview;Current Nutrition & Food Science;2021-02-08

5. Iron Metabolism and Related Disorders;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2021

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3