A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites

Published:2011-05-25 Issue:10 Volume:19 Page:1045-1051
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Chong Jessica X,Oktay A Afşin,Dai Zunyan,Swoboda Kathryn J,Prior Thomas W,Ober Carole

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201185.pdf

Reference40 articles.

1. Hendrickson BC, Donohoe C, Akmaev VR et al: Differences in SMN1 allele frequencies among ethnic groups within North America. J Med Genet 2009; 46: 641–644.

2. Prior TW, Snyder PJ, Rink BD et al: Newborn and carrier screening for spinal muscular atrophy. Am J Med Genet A 2010; 152A: 1608–1616.

3. Campbell L, Potter A, Ignatius J, Dubowitz V, Davies K : Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am J Hum Genet 1997; 61: 40–50.

4. Wirth B : An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat 2000; 15: 228–237.

5. Martín Y, Valero A, del Castillo E, Pascual SI, Hernández-Chico C : Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations. Hum Genet 2002; 110: 257–263.

Cited by 16 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. Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets;2024-02-13

2. Whole exome sequencing provides a diagnosis of spinal muscular atrophy pedigree with SMN1 “2+0” genotype;2022-10-11

3. What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective;International Journal of Molecular Sciences;2021-08-06

4. Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history;PLOS ONE;2018-09-06

5. Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review;Orphanet Journal of Rare Diseases;2017-07-04

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