Phenotype-Genotype Correlation in Wilson Disease in a Large Lebanese Family: Association of c.2299insC with Hepatic and of p. Ala1003Thr with Neurologic Phenotype
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference44 articles.
1. The outlook for the diagnosis of Wilson's disease;I Sternlieb;J Hepatol,1993
2. Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease;HW Yoo;Genet Med,2002
3. Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation;R Bruha;Liver Int,2011
4. Wilson disease;M Harada;Med Electron Microsc,2002
5. Diagnosis of Wilson's disease: an experience over three decades;PJ Gow;Gut,2000
Cited by 19 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. Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson’s Disease;Cells;2024-07-18
2. Copper-Induced Epigenetic Changes Shape the Clinical Phenotype in Wilson’s Disease;Current Medicinal Chemistry;2021-05-28
3. Liver Diseases;Clinical Molecular Diagnostics;2021
4. Psychoses Due to Medical Illness or Iatrogenesis;Psychotic Disorders;2021
5. Management of Wilson Disease Diagnosed in Infancy: An Appraisal of Available Experience to Generate Discussion;Journal of Pediatric Gastroenterology & Nutrition;2020-05
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