Literature DB >> 7525963

Mutation analysis in 600 French cystic fibrosis patients.

F Chevalier-Porst1, A M Bonardot, R Gilly, J P Chazalette, M Mathieu, D Bozon.   

Abstract

The cystic fibrosis transmembrane conductance regulator (CFTR) gene of 600 unrelated cystic fibrosis (CF) patients living in France (excluding Brittany) was screened for 105 different mutations. This analysis resulted in the identification of 86% of the CF alleles and complete genotyping of 76% of the patients. The most frequent mutations in this population after delta F508 (69% of the CF chromosomes) are G542X (3.3%), N1303K (1.8%), W1282X (1.5%), 1717-1G-->A (1.3%), 2184delA + 2183 A-->G (0.9%), and R553X (0.8%).

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Year:  1994        PMID： 7525963      PMCID： PMC1049976          DOI： 10.1136/jmg.31.7.541

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  28 in total

1.  Rapid nonradioactive detection of the major cystic fibrosis mutation.

Authors:  J Rommens; B S Kerem; W Greer; P Chang; L C Tsui; P Ray
Journal:  Am J Hum Genet       Date:  1990-02       Impact factor: 11.025

2.  Identification of the cystic fibrosis gene: genetic analysis.

Authors:  B Kerem; J M Rommens; J A Buchanan; D Markiewicz; T K Cox; A Chakravarti; M Buchwald; L C Tsui
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

3.  Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

Authors:  J R Riordan; J M Rommens; B Kerem; N Alon; R Rozmahel; Z Grzelczak; J Zielenski; S Lok; N Plavsic; J L Chou
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

4.  Four novel cystic fibrosis mutations in splice junction sequences affecting the CFTR nucleotide binding folds.

Authors:  T Dörk; U Wulbrand; B Tümmler
Journal:  Genomics       Date:  1993-03       Impact factor: 5.736

5.  Genotype/phenotype association in cystic fibrosis: analyses of the delta F508, R553X, and 3905insT mutations.

Authors:  S Liechti-Gallati; I Bonsall; N Malik; V Schneider; L G Kraemer; A Ruedeberg; H Moser; R Kraemer
Journal:  Pediatr Res       Date:  1992-08       Impact factor: 3.756

6.  Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis.

Authors:  R Rozen; M De Braekeleer; J Daigneault; L Ferreira-Rajabi; M Gerdes; L Lamoureux; G Aubin; F Simard; T M Fujiwara; K Morgan
Journal:  Am J Med Genet       Date:  1992-02-01

7.  A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients.

Authors:  T Dörk; N Kälin; M Stuhrmann; J Schmidtke; B Tümmler
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

8.  Genetic determination of exocrine pancreatic function in cystic fibrosis.

Authors:  P Kristidis; D Bozon; M Corey; D Markiewicz; J Rommens; L C Tsui; P Durie
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

9.  Identification of the cystic fibrosis gene: chromosome walking and jumping.

Authors:  J M Rommens; M C Iannuzzi; B Kerem; M L Drumm; G Melmer; M Dean; R Rozmahel; J L Cole; D Kennedy; N Hidaka
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

10.  Benign missense variations in the cystic fibrosis gene.

Authors:  K Kobayashi; M R Knowles; R C Boucher; W E O'Brien; A L Beaudet
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025
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  8 in total

1.  High incidence of delta I507 mutation of the CFTR gene in a limited area of the north west of France.

Authors:  H Mittre; P Leymarie; N Leporrier
Journal:  J Med Genet       Date:  1995-07       Impact factor: 6.318

2.  Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure.

Authors:  G Castaldo; E Rippa; G Sebastio; V Raia; P Ercolini; G de Ritis; D Salvatore; F Salvatore
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

3.  Clinical features of cystic fibrosis patients with rare genotypes.

Authors:  G Castaldo; E Rippa; V Raia; D Salvatore; C Massa; G de Ritis; F Salvatore
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

4.  Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences.

Authors:  X Estivill; L Ortigosa; J Pérez-Frias; J Dapena; J Ferrer; L Peña; L Peña; R Llevadot; J Giménez; V Nunes
Journal:  Hum Genet       Date:  1995-03       Impact factor: 4.132

5.  Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.

Authors:  N Morral; R Llevadot; T Casals; P Gasparini; M Macek; T Dörk; X Estivill
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025

6.  Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.

Authors:  T Dörk; F Mekus; K Schmidt; J Bosshammer; R Fislage; T Heuer; V Dziadek; T Neumann; N Kälin; U Wulbrand
Journal:  Hum Genet       Date:  1994-11       Impact factor: 4.132

7.  CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations.

Authors:  Nasibeh Karimi; Reza Alibakhshi; Shekoufeh Almasi
Journal:  J Reprod Infertil       Date:  2018 Jan-Mar

8.  The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

Authors:  Murat Erdoğan; Mehmet Köse; Sevgi Pekcan; Melih Hangül; Burhan Balta; Aslıhan Kiraz; Gizem Akıncı Gönen; Ayşe Gül Zamani; Mahmut Selam Yıldırım; Tuğba Ramaslı Gürsoy; Fatih Ezgu; Tuğba Şişmanlar Eyüpoğlu; Ayse Tana Aslan
Journal:  Balkan Med J       Date:  2021-11       Impact factor: 2.021
  8 in total

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