(Q71720933)

English

Mutation heterogeneity of cystic fibrosis in France: screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide

scientific article published on 01 January 1995

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scholarly article

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Europe PubMed Central

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20 October 2019

Mutation heterogeneity of cystic fibrosis in France: screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550227%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference

based on heuristic

inferred from title

cystic fibrosis

1 reference

based on heuristic

inferred from title

author name string

Bienvenu T

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550227%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Cazeneuve C

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550227%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Kaplan JC

3

1 reference

Europe PubMed Central

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20 October 2019

Beldjord C

4

1 reference

Europe PubMed Central

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20 October 2019

publication date

1 January 1995

1 reference

Europe PubMed Central

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20 October 2019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550227%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

6

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Europe PubMed Central

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20 October 2019

1

1 reference

Europe PubMed Central

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20 October 2019

23-29

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550227%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Identification of 12 novel mutations in the CFTR gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a new frameshift mutation (3724 delG) in exon 19 of the CFTR gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

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

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

Psoralen-modified oligonucleotide primers improve detection of mutations by denaturing gradient gel electrophoresis and provide an alternative to GC-clamping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

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

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

A donor splice mutation (405 + 1 G → A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of over 98% cystic fibrosis mutations in a Celtic population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of Eight Novel Mutations in a Collaborative Analysis of a Part of the Second Transmembrane Domain of the CFTR Gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of 14 cystic fibrosis mutations in five South European populations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

The spectrum of cystic fibrosis mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060106

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.1380060106

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550227%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550227%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

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