(Q42659215)

4 November 2017

Mutation analysis in 600 French cystic fibrosis patients (English)

1 reference

4 November 2017

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Chevalier-Porst F

1

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4 November 2017

Bonardot AM

2

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4 November 2017

Gilly R

3

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4 November 2017

Chazalette JP

4

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4 November 2017

Mathieu M

5

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4 November 2017

Bozon D

6

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4 November 2017

language of work or name

English

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publication date

1 July 1994

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Journal of Medical Genetics

4 November 2017

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4 November 2017

31

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4 November 2017

7

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4 November 2017

541-544

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Identification of 12 novel mutations in the CFTR gene.

4 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049976

Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049976

Identification of the cystic fibrosis gene: chromosome walking and jumping

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049976

Identification of the cystic fibrosis gene: genetic analysis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049976

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049976

Rapid nonradioactive detection of the major cystic fibrosis mutation.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049976

Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049976

Benign missense variations in the cystic fibrosis gene

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049976

Rapid detection of 1717-1G----A mutation in CFTR gene by PCR-mediated site-directed mutagenesis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049976

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049976

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049976

Genetic determination of exocrine pancreatic function in cystic fibrosis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049976

Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049976

Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049976

Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667de14)

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049976

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

1 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049976

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

1 December 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Four Novel Cystic Fibrosis Mutations in Splice Junction Sequences Affecting the CFTR Nucleotide Binding Folds

1 reference

12 December 2020

Methods for analysis of multiple cystic fibrosis mutations

1 reference

12 December 2020

A nonsense mutation in exon 4 of the cystic fibrosis gene frequent among the population of the Reunion Island

1 reference

12 December 2020

A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator

1 reference

12 December 2020

Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes

1 reference

12 December 2020

A novel frame-shift mutation in exon 4 of the cystic fibrosis gene (435insA) demonstrates the ambiguity of restriction analysis for mutation screening

1 reference

12 December 2020

Identification of three rare frameshift mutations in exon 13 of the cystic fibrosis gene: 1918delGC, 2118del4 and 2372del8

1 reference

12 December 2020

Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France

1 reference

12 December 2020

Identification of a 31-bp insertion (3860ins31) in exon 20 of the cysticfibrosis (CFTR) gene

1 reference

12 December 2020

Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.31.7.541

1 reference

4 November 2017

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4 November 2017

PubMed publication ID

7525963

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