A nonsense mutation inMMEgene associates with autosomal recessive late‐onsetCharcot–Marie–Toothdisease
Author:
Affiliation:
1. Department of Biology, Faculty of Science Yazd University Yazd Iran
2. Department of Biology, Faculty of Science University of Zabol Zabol Iran
3. Human Genetics Research Center Baqiyatallah University of Medical Sciences Tehran Iran
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1913
Reference36 articles.
1. Rapid genomic DNA extraction (RGDE)
2. Late onset Charcot–Marie–Tooth 2 syndrome caused by two novel mutations in the MPZ gene
3. Rare Variants in MME , Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies
4. Molecular genetics of Charcot‐Marie‐tooth disease: From genes to genomes;Azzedine H.;Molecular Syndromology,2012
5. A Test in Context: Neprilysin
Cited by 5 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 variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families;BMC Medical Genomics;2024-09-04
2. Association of MME gene polymorphisms with susceptibility to Alzheimer's disease in an Iranian population;Heliyon;2024-09
3. A deep intronic variant in MME causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing;Journal of the Peripheral Nervous System;2024-06
4. A deep intronic variant inMMEcauses autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing;2024-04-24
5. Expanding the Molecular Spectrum of HK1-Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran;Archives of Iranian Medicine;2023-05-01
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