Genetic cause of a Juvenile Form of Sandhoff Disease
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference31 articles.
1. Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain.
2. Organization of the gene encoding the human beta-hexosaminidase alpha-chain.
3. Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease.
4. Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes.
Cited by 41 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. Lysosomal storage diseases. Sphingolipidoses — gangliosidoses;Pediatrician (St. Petersburg);2023-11-23
2. Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans;Molecular and Cellular Probes;2013-02
3. Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients;Gene;2013-01
4. GM2 gangliosidoses in Spain: Analysis of the HEXA and HEXB genes in 34 Tay–Sachs and 14 Sandhoff patients;Gene;2012-09
5. Genetic Counselling: Consanguinity and Cultural Expectations;eLS;2012-05-15
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