A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements

Published:2009-05-13 Issue:12 Volume:17 Page:1683-1687
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Taulan Magali,Guittard Caroline,Theze Corinne,Claustres Mireille,Georges Marie des

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg200973.pdf

Reference16 articles.

1. Schneider M, Hirt C, Casaulta C et al: Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF. Clin Genet 2007; 72: 30–38.

2. Taulan M, Girardet A, Guittard C et al: Large genomic rearrangements in the CFTR gene contribute to CBAVD. BMC Med Genet 2007; 8: 22.

3. Paracchini V, Seia M, Coviello D et al: Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions. Clin Genet 2008; 73: 346–352.

4. Morral N, Nunes V, Casals T et al: Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion. Hum Mol Genet 1993; 2: 677–681.

5. Niel F, Legendre M, Bienvenu T et al: A new large CFTR rearrangement illustrates the importance of searching for complex alleles. Hum Mutat 2006; 27: 716–717.

Cited by 9 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. Case Report: Japanese Siblings of Cystic Fibrosis With a Novel Large Heterozygous Deletion in the CFTR Gene;Frontiers in Pediatrics;2022-01-03

2. Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis;BMC Medical Genomics;2018-02

3. CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rareCFTRvariants;Human Mutation;2017-06-28

4. Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion inACVRL1Suggests the Causing Mechanism;Molecular Syndromology;2013

5. Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene;Gene;2012-06

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