(Q71604867)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7506096%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

title

A mutation in CFTR produces different phenotypes depending on chromosomal background (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7506096%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference

Kiesewetter S

1

1 reference

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19 October 2019

Macek M Jr

2

1 reference

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19 October 2019

Davis C

3

1 reference

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19 October 2019

Curristin SM

4

1 reference

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19 October 2019

Chu CS

5

1 reference

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19 October 2019

Graham C

6

1 reference

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19 October 2019

Shrimpton AE

7

1 reference

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19 October 2019

Cashman SM

8

1 reference

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19 October 2019

Tsui LC

9

1 reference

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19 October 2019

Mickle J

10

1 reference

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19 October 2019

publication date

1 November 1993

1 reference

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19 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7506096%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

volume

5

1 reference

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19 October 2019

issue

3

1 reference

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19 October 2019

page(s)

274-278

1 reference

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The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

19 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-274

7 January 2021

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-274

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-274

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/10.1038%2FNG1193-274

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-274

7 January 2021

Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance.

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-274

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-274

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/10.1038%2FNG1193-274

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-274

7 January 2021

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-274

7 January 2021

Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-274

7 January 2021

The spectrum of cystic fibrosis mutations

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-274

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-274

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-274

7 January 2021

A Cystic Fibrosis Bronchial Epithelial Cell Line: Immortalization by Adeno-12-SV40 Infection

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-274

7 January 2021

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-274

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/10.1038%2FNG1193-274

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/10.1038%2FNG1193-274

7 January 2021

Identification of 12 novel mutations in the CFTR gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-274

7 January 2021

Identifiers

DOI

10.1038/NG1193-274

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7506096%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference