A Frequent Large Rearrangement in theCFTRGene in Cystic Fibrosis Patients from Reunion Island-Reference-Cited by-同舟云学术

A Frequent Large Rearrangement in theCFTRGene in Cystic Fibrosis Patients from Reunion Island

Published:2006-09 Issue:3 Volume:10 Page:208-214
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Nectoux Juliette¹,Audrezet Marie Pierre²,Viel Marion¹,Leroy Chrystel¹,Raguenes Odile²,Ferec Claude²,Lesure Jean François³,Davy Nolwenne⁴,Renouil Michel⁴,Cartault François⁵,Bienvenu Thierry¹

Affiliation:

1. Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, Paris, France.

2. Laboratoire de Biologia Moléculaire et d' Histocompatibilité, Chu Morvan, Brest, France.

3. Service des petits enfants, Hôpital d'Enfants, Saint-Denis, Réunion, France.

4. Service de Pédiatrie, CHS Sud Réunion, BP350, 97448 St Pierre Cedex, Réunion, France.

5. Service de Génétique, CHD Felix Guyon, St. Denis, Réunion, France.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/gte.2006.10.208

Reference23 articles.

1. Genomic rearrangements in theCFTRgene: Extensive allelic heterogeneity and diverse mutational mechanisms

2. Spectrum of CFTR Mutations on Reunion Island: Effect of Neonatal Screening

3. CFTR haplotype backgrounds on normal and mutant CFTR genes

4. Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families

5. Genetic studies of the lac repressor

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2. Cystic Fibrosis;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2020

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

4. Cystic Fibrosis;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

5. Multiplex Ligation-Dependent Probe Amplification Identification of Whole Exon and Single Nucleotide Deletions in the CFTR Gene of Hispanic Individuals with Cystic Fibrosis;The Journal of Molecular Diagnostics;2008-07