Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes
Author:
Affiliation:
1. Molecular Neurobiology and Neuropathology Department, National Institute Mongi Ben Hamida of Neurology, Tunisia
2. Laboratoire Procédés de Criblage Moléculaire et Cellulaire, Centre de Biotechnologie de Sfax, Université de Sfax, Sfax, Tunisia
Publisher
Informa UK Limited
Subject
Cellular and Molecular Neuroscience,Genetics
Link
https://www.tandfonline.com/doi/pdf/10.1080/01677063.2023.2281916
Reference28 articles.
1. Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin
2. Clinical and Molecular Findings of Ataxia With Oculomotor Apraxia Type 2 in 4 Families
3. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
4. Ataxia with vitamin E deficiency (AVED); an example of the contribution of research in molecular genetic to counselling in Morocco
5. Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families
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