A Splicing Mutation in Intron 16 of the Cystic Fibrosis Transmembrane Conductance Regulator Gene, Associated with Severe Disease, Is Common on Reunion Island-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A Splicing Mutation in Intron 16 of the Cystic Fibrosis Transmembrane Conductance Regulator Gene, Associated with Severe Disease, Is Common on Reunion Island

Published:1996 Issue:3 Volume:46 Page:168-171
ISSN:1423-0062
Container-title:Human Heredity
language:en
Short-container-title:Hum Hered

Author:

Bienvenu T.,Cartault F.,Lesure F.,Renouil M.,Beldjord C.,Kaplan J.C.

Publisher

S. Karger AG

Subject

Genetics (clinical),Genetics

Cited by 7 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. Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation;Molecular Genetics & Genomic Medicine;2017-10-11

2. The p.Gly622Asp (G622D) mutation, frequently found in Reunion Island and in black populations, is associated with a wide spectrum of CF and CFTR-RD phenotypes;Journal of Cystic Fibrosis;2015-05

3. Detection of more than 91% cystic fibrosis mutations in a sample of the population from Reunion Island and identification of two novel mutations (A309G, S1255L) and one novel polymorphism (L49L);Clinical Genetics;2008-06-28

4. Cystic fibrosis at the Reunion Island (France): spectrum of mutations and genotype-phenotype for the Y122X mutation;Journal of Cystic Fibrosis;2004-08

5. Aspects cliniques et spécificités génétiques de la mucoviscidose à l’île de la Réunion;Archives de Pédiatrie;2003-11

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