(Q34211892)

English

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

scientific article published on January 1, 1992

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

1 reference

Europe PubMed Central

Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

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

1 reference

10.1002/HUMU.1380010304

https://api.crossref.org/works/10.1002/HUMU.1380010304

23 November 2023

cystic fibrosis

0 references

transmembrane protein

0 references

1 reference

10.1002/HUMU.1380010304

https://api.crossref.org/works/10.1002/HUMU.1380010304

23 November 2023

author name string

Tsui LC

1

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1284534

23 November 2023

publication date

1 January 1992

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

full work available at URL

https://doi.org/10.1002/humu.1380010304

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1284534

23 November 2023

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.1380010304

1 reference

10.1002/HUMU.1380010304

https://api.crossref.org/works/10.1002/HUMU.1380010304

23 November 2023

https://onlinelibrary.wiley.com/doi/full/10.1002/humu.1380010304

1 reference

10.1002/HUMU.1380010304

https://api.crossref.org/works/10.1002/HUMU.1380010304

23 November 2023

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

197-203

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Mutation analysis for cystic fibrosis in a North American population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

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.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

SSCP-polymorphism in intron 12 of the CFTR gene recognized by BcII.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

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.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

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.1380010304

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/10.1002%2FHUMU.1380010304

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.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010304

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.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

A 22-bp deletion in the coding region of the cystic fibrosis gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

A HinfI polymorphism in the cystic fibrosis gene CFTR.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010304

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.1380010304

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.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

A tetranucleotide repeat polymorphism in the cystic fibrosis gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a frameshift mutation (557 del T) in exon 4 of the CFTR gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

A 3' splice site consensus sequence mutation in the cystic fibrosis gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

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.1380010304

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/10.1002%2FHUMU.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

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.1380010304

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.1380010304

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.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010304

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.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010304

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.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

A frame-shift mutation in the cystic fibrosis gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

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.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

A de Novo cystic fibrosis mutation: CGA (Arg) to TGA (stop) at codon 851 of the CFTR gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

Missense variation of the CFTR gene codon 507

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010304

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/10.1002%2FHUMU.1380010304

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.1380010304

7 January 2021

based on heuristic

inferred from DOI database lookup

Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium

9

1 reference

10.1002/HUMU.1380010304

https://api.crossref.org/works/10.1002/HUMU.1380010304

23 November 2023

Journal of Medical Genetics

29

28

571

author name string

Graham

publication date

1991

1 reference

10.1002/HUMU.1380010304

https://api.crossref.org/works/10.1002/HUMU.1380010304

23 November 2023

Pediatric pulmonology. Supplement

51

6

244

author name string

Smit

publication date

1991

1 reference

10.1002/HUMU.1380010304

https://api.crossref.org/works/10.1002/HUMU.1380010304

23 November 2023

Identifiers

10.1002/HUMU.1380010304

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

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