Cystic fibrosis at the Reunion Island (France): spectrum of mutations and genotype-phenotype for the Y122X mutation-Reference-Cited by-同舟云学术

Cystic fibrosis at the Reunion Island (France): spectrum of mutations and genotype-phenotype for the Y122X mutation

Published:2004-08 Issue:3 Volume:3 Page:185-188
ISSN:1569-1993
Container-title:Journal of Cystic Fibrosis
language:en
Short-container-title:Journal of Cystic Fibrosis

Author:

Duguépéroux Ingrid,Bellis Gil,Lesure Jean-François,Renouil Michel,Flodrops Hughes,De Braekeleer Marc

Publisher

Elsevier BV

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology, and Child Health

Reference10 articles.

1. Relationship between genotype and phenotype for the CFTR gene W846X mutation;Duguépéroux;J. Med. Genet.,2002

2. A nonsense mutation in exon 4 of the cystic fibrosis gene frequent among the population of the Reunion Island;Chevalier-Porst;Hum. Mol. Genet.,1992

3. Population variation of common cystic fibrosis mutations;Hum. Mutat.,1994

4. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations;Estivill;Hum. Mutat.,1997

5. Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%;Macek;Am. J. Hum. Genet.,1997

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. A rare variant c.1802T>C (p. Ile601Thr) associated with severe phenotype among people with cystic fibrosis from south India, and potential genetic admixture in Réunion, France;Pediatric Pulmonology;2024-03-19

2. CFTR and Cystic Fibrosis: A Need for Personalized Medicine;Studies of Epithelial Transporters and Ion Channels;2020

3. Abundant off-target edits from site-directed RNA editing can be reduced by nuclear localization of the editing enzyme;RNA Biology;2017-11-13

4. High-Throughput Screening for Readthrough Modulators of CFTR PTC Mutations;SLAS TECHNOLOGY: Translating Life Sciences Innovation;2017-02-01

5. CFTR and Cystic Fibrosis: A Need for Personalized Medicine;Ion Channels and Transporters of Epithelia in Health and Disease;2015-12-15