(Q71670536)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7530552%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

title

Population variation of common cystic fibrosis mutations. The Cystic Fibrosis Genetic Analysis Consortium (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7530552%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference

1 January 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7530552%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7530552%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

volume

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7530552%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7530552%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

page(s)

167-177

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7530552%20AND%20SRC:MED&resulttype=core&format=json

Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: identification of two new mutations

20 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040302

7 January 2021

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.1380040302

7 January 2021

A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040302

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040302

7 January 2021

Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040302

7 January 2021

A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040302

7 January 2021

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.1380040302

7 January 2021

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.1380040302

7 January 2021

Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040302

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040302

7 January 2021

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.1380040302

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040302

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040302

7 January 2021

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.1380040302

7 January 2021

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.1380040302

7 January 2021

A novel mutation in exon 3 of the CFTR gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040302

7 January 2021

A deletion of two nucleotides in exon 10 of the CFTR gene in a Soviet family with cystic fibrosis causing early infant death

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040302

7 January 2021

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/10.1002%2FHUMU.1380040302

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040302

7 January 2021

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040302

7 January 2021

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.1380040302

7 January 2021

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.1380040302

7 January 2021

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.1380040302

7 January 2021

Single-stranded conformation polymorphism analysis of the CFTR gene in slovenian cystic fibrosis patients: Detection of mutations and sequence variations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040302

7 January 2021

Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040302

7 January 2021

A New Mutation in the CFTR Gene, Composed of Two Adjacent DNA Alterations, Is a Common Cause of Cystic Fibrosis among Georgian Jews

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040302

7 January 2021

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.1380040302

7 January 2021

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/10.1002%2FHUMU.1380040302

7 January 2021

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.1380040302

7 January 2021

Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT)1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040302

7 January 2021

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.1380040302

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380040302

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7530552%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference