Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of tay-sachs disease gene carriers among Ashkenazic Jews-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of tay-sachs disease gene carriers among Ashkenazic Jews

Published:1992 Issue:3 Volume:9 Page:169-175
ISSN:0741-0395
Container-title:Genetic Epidemiology
language:en
Short-container-title:Genet. Epidemiol.

Author:

Fernandes Maria J. G.,Kaplan Feige,Clow Caroline L.,Hechtman Peter,Scriver Charles R.,Mulvihill John. J.

Publisher

Wiley

Subject

Genetics (clinical),Epidemiology

Reference32 articles.

1. Identification of an altered splice site in Ashkenazi Tay-Sachs disease;Arpaia;Nature (London),1988

2. Synthesis of 4 methylumbelliferyl-b-D-nacetylglucosamine-6-sulfate and its use in classification of GM2 ganglioside genotypes;Bayleran;Clin Chim Acta,1984

3. Advocacy and compliance in genetic screening. Behaviour of physicians and clients in a voluntary program of testing for the Tay-Sachs gene;Beck;New Engl J Med,1974

Cited by 26 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. Prenatal Diagnosis of Tay-Sachs Disease;Prenatal Diagnosis;2018-12-01

2. Lysosomal storage disorders;Biomarkers in Inborn Errors of Metabolism;2017

3. Platelet Hexosaminidase A Enzyme Assay Effectively Detects Carriers Missed by Targeted DNA Mutation Analysis;JIMD Reports;2012

4. Assessing the Potential Success of Cystic Fibrosis Carrier Screening: Lessons Learned from Tay-Sachs Disease and β-Thalassemia;Public Health Genomics;2010

5. Carrier Screening of Adolescents in Montreal;eLS;2009-12-15

同舟云学术

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