(Q71609672)

English

Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene

scientific article published on 01 December 1993

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7508414%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7508414%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

cystic fibrosis

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author name string

H Cuppens

1

1 reference

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19 October 2019

P Marynen

2

1 reference

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19 October 2019

C De Boeck

3

1 reference

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19 October 2019

J J Cassiman

4

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19 October 2019

publication date

1 December 1993

1 reference

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19 October 2019

1 reference

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19 October 2019

18

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19 October 2019

693-697

1 reference

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19 October 2019

3

1 reference

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19 October 2019

Demonstration That CFTR Is a Chloride Channel by Alteration of Its Anion Selectivity

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980376-3

7 January 2021

based on heuristic

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Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manif

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980376-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980376-3

7 January 2021

based on heuristic

inferred from DOI database lookup

A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980376-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Simultaneous screening for 11 mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex amplification and reverse dot-blot

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980376-3

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/10.1016%2FS0888-7543%2805%2980376-3

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/10.1016%2FS0888-7543%2805%2980376-3

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/10.1016%2FS0888-7543%2805%2980376-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980376-3

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/10.1016%2FS0888-7543%2805%2980376-3

7 January 2021

based on heuristic

inferred from DOI database lookup

A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980376-3

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/10.1016%2FS0888-7543%2805%2980376-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980376-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980376-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties.

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980376-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980376-3

7 January 2021

based on heuristic

inferred from DOI database lookup

The spectrum of cystic fibrosis mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980376-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular cloning and sequence analysis of the murine cDNA for the cystic fibrosis transmembrane conductance regulator

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980376-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980376-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0888-7543(05)80376-3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7508414%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7508414%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

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