Heterozygosity for Tay-Sachs and Sandhoff Diseases in Non-Jewish Americans with Ancestry from Ireland, Great Britain, or Italy-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Heterozygosity for Tay-Sachs and Sandhoff Diseases in Non-Jewish Americans with Ancestry from Ireland, Great Britain, or Italy

Published:2004-06 Issue:2 Volume:8 Page:174-180
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Branda Kelly Johnston¹,Tomczak Jerzy²,Natowicz Marvin R.³⁴

Affiliation:

1. Department of Biology/Genetic Counseling, Brandeis University, Waltham, MA 02454.

2. Division of Medical Genetics, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107.

3. Division of Medical Genetics, Shriver Center for Mental Retardation, Waltham, MA 02254.

4. Harvard Medical School and Departments of Neurology, Pathology and Pediatrics, Massachusetts General Hospital, Boston, MA 02114.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/gte.2004.8.174

Reference41 articles.

1. A mutation common in non-jewish Tay-Sachs disease: Frequency and RNA studies

2. Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments

3. A null allele frequent in non-Jewish Tay-Sachs patients

4. Identification of an altered splice site in Ashkenazi Tay-Sachs disease

Cited by 14 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. Bibliography;Diagnostic Molecular Biology;2023

2. Bibliography;Diagnostic Molecular Biology;2019

3. Genomic sequencing identifies secondary findings in a cohort of parent study participants;Genetics in Medicine;2018-12

4. Ethnicity-Based Carrier Screening;Obstetrics and Gynecology Clinics of North America;2018-03

5. Genomic sequencing identifies secondary findings in a cohort of parent study participants;2017-09-01

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

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