The major mutation in theRMRPgene causing CHH among the Amish is the same as that found in most Finnish cases

Author:

Ridanpää Maaret,Jain Pawan,Mckusick Victor A.,Francomano Clair A.,Kaitila Ilkka

Funder

March of Dimes Birth Defects Foundation

Helsinki University's Research Funds

Helsinki University Central Hospital Fund

Intramural Research Programs of the National Human Genome Research Institute and the National Institute on Aging

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference23 articles.

1. 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;Am J Hum Genet,1996

2. RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms;Bonafé;Clin Genet,2002

3. Disease gene mapping in isolated human populations: the example of Finland;de la Chapelle;J Med Genet,1993

4. Progressive muscular dystrophy: autosomal recessive type;Jackson;Pediatrics,1961

5. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1;Johnston;Am J Hum Genet,2000

Cited by 38 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

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