Two novel mutations in the myophosphorylase gene in a patient with McArdle disease
Author:
Publisher
Wiley
Subject
Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology
Reference9 articles.
1. Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase
2. A Novel Nonsense Mutation (R269X) in the Myophosphorylase Gene in a Patient with McArdle Disease
3. Muscle glycogenoses
4. Evolution of Allosteric Control in Glycogen Phosphorylase
5. Molecular diagnosis of McArdle disease: Revised genomic structure of the myophosphorylase gene and identification of a novel mutation
Cited by 12 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. Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance;Clinical Case Reports;2018-01-28
2. Myophosphorylase ( PYGM ) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease;Neuromuscular Disorders;2017-11
3. McArdle Disease: Update of Reported Mutations and Polymorphisms in thePYGMGene;Human Mutation;2015-06-03
4. Molecular and clinical study of McArdle’s disease in a cohort of 123 European patients. Identification of 20 novel mutations;Neuromuscular Disorders;2011-12
5. High-resolution Melting Facilitates Mutation Screening ofPYGMin Patients with McArdle Disease;Annals of Human Genetics;2009-05
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