ATP 7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

ATP 7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis

Published:2019-04 Issue:4 Volume:61 Page:345-350
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatrics International

Author:

Fujisawa Chie¹^ORCID,Kodama Hiroko¹²,Hiroki Tomoko¹,Akasaka Yoshikiyo³,Hamanoue Makoto⁴

Affiliation:

1. Department of Pediatrics Teikyo University School of Medicine Tokyo Japan

2. Department of Health and Nutrition Faculty of Health and Medical Science Teikyo Heisei University Tokyo Japan

3. Regenerative Disease Research Unit Advanced Research Center Toho University Tokyo Japan

4. Department of Physiology Toho University School of Medicine Tokyo Japan

Funder

Research on Rare and Intractable Diseases, Health and Labour Sciences Research Grants

Publisher

Wiley

Subject

Pediatrics, Perinatology, and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ped.13817

Reference27 articles.

1. MENKES' KINKY-HAIR SYNDROME

2. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

3. An Overview and Update ofATP7AMutations Leading to Menkes Disease and Occipital Horn Syndrome

4. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

5. ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome

Cited by 8 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. Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant;Scientific Reports;2024-01-03

2. Early clinical signs and treatment of Menkes disease;Molecular Genetics and Metabolism Reports;2022-06

3. Elastic tissue disruption is a major pathogenic factor to human vascular disease;Molecular Biology Reports;2021-06-15

4. Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease;Genes;2021-05-14

5. Dosage Compensation in Females with X-Linked Metabolic Disorders;International Journal of Molecular Sciences;2021-04-26

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