A nonsense mutation in FMR1 causing fragile X syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg2010223.pdf
Reference15 articles.
1. Chonchaiya W, Schneider A, Hagerman RJ : Fragile X: a family of disorders. Adv Pediatr 2009; 56: 165–186.
2. Verkerk AJ, Pieretti M, Sutcliffe JS et al: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991; 65: 905–914.
3. Collins SC, Bray SM, Suhl JA et al: Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males. Am J Med Genet A 2010; 10: 2512–2520.
4. DeBoulle K, Verkerk AJMH, Reyniers E et al: A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet 1993; 3: 31–35.
5. Lugenbeel KA, Peier AM, Carson NL, Chudley AE, Nelson DL : Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. Nat Genet 1995; 10: 483–485.
Cited by 42 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. Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders;Journal of Cell Biology;2024-04-03
2. Pharmacogenetics in Epilepsy and Refractory Epilepsy;Pharmacoresistance in Epilepsy;2023
3. FMR1 Gene Mutation Analysis and CGG Repeat Number Distribution from a Single Center;Gazi Medical Journal;2022-10-01
4. Epilepsy Characteristics in Neurodevelopmental Disorders: Research from Patient Cohorts and Animal Models Focusing on Autism Spectrum Disorder;International Journal of Molecular Sciences;2022-09-16
5. FMRP-Driven Neuropathology in Autistic Spectrum Disorder and Alzheimer's disease: A Losing Game;Frontiers in Molecular Biosciences;2021-10-25
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