(Q40945149)

English

Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis.

scientific article published on June 1999

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scholarly article

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9 December 2019

Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10386624%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

transmembrane protein

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cystic fibrosis

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2

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9 December 2019

1

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9 December 2019

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R Labarthe

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9 December 2019

P Hulin

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9 December 2019

E Girodon

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9 December 2019

P Pagesy

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9 December 2019

M Goossens

7

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9 December 2019

A Edelman

8

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9 December 2019

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publication date

1 June 1999

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9 December 2019

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9 December 2019

452

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9 December 2019

3

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9 December 2019

371-374

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9 December 2019

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

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900647-X

21 January 2018

Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900647-X

21 January 2018

Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900647-X

21 January 2018

Mutations of the cystic fibrosis gene in patients with chronic pancreatitis

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900647-X

21 January 2018

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900647-X

21 January 2018

Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900647-X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900647-X

21 January 2018

Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900647-X

21 January 2018

Abnormal distribution of CF delta F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900647-X

21 January 2018

Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900647-X

21 January 2018

Cystic fibrosis transmembrane conductance regulator gene mutations in severe nasal polyposis

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900647-X

21 January 2018

Double mutant alleles: are they rare?

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900647-X

21 January 2018

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/10.1016%2FS0014-5793%2899%2900647-X

21 January 2018

Cystic fibrosis phenotype associated with pancreatic insufficiency does not always reflect the cAMP-dependent chloride conductive pathway defect. Analysis of C225R-CFTR and R1066C-CFTR

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900647-X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900647-X

21 January 2018

A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900647-X

21 January 2018

Role of CFTR in airway disease

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900647-X

7 January 2021

Identifiers

10.1016/S0014-5793(99)00647-X

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10386624%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10386624%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

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