Mendelian disease research in the Plain populations of Lancaster County, Pennsylvania

Author:

Puffenberger Erik G.1ORCID

Affiliation:

1. The Clinic for Special Children Strasburg Pennsylvania USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference52 articles.

1. A Genome-Wide Scan for Autoimmune Thyroiditis in the Old Order Amish: Replication of Genetic Linkage on Chromosome 5q11.2-q14.3

2. Gene structure and mutations of glutaryl‐coenzyme A dehydrogenase: Impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish;Biery B. J.;American Journal of Human Genetics,1996

3. An update of Gaucher mutations distribution in the Ashkenazi Jewish population: Prevalence and country of origin of the mutation R496H;Bronstein S.;Israel Medical Association Journal,2014

4. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT

5. Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history

Cited by 1 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. Festschrift for Victor A. McKusick on the Centenary of his Birth: Introduction;American Journal of Medical Genetics Part A;2021-08-02

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