(Q67468879)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1284540%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

title

Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1284540%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference

8

Collins FS

2 references

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13 September 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1284540

9 September 2022

1

Strong TV

1 reference

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9 September 2022

author name string

Smit LS

2

1 reference

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13 September 2019

Nasr S

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1284540%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

Wood DL

4

1 reference

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13 September 2019

Cole JL

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1284540%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

Iannuzzi MC

6

1 reference

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13 September 2019

Stern RC

7

1 reference

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13 September 2019

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1284540

9 September 2022

publication date

1 January 1992

1 reference

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13 September 2019

1 reference

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13 September 2019

volume

1

1 reference

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13 September 2019

page(s)

380-387

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1284540%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

issue

5

1 reference

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Nucleoside triphosphates are required to open the CFTR chloride channel.

13 September 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010506

7 January 2021

Bacterial periplasmic permeases belong to a family of transport proteins operating from Escherichia coli to human: Traffic ATPases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010506

7 January 2021

Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010506

7 January 2021

Phosphorylation of the R domain by cAMP-dependent protein kinase regulates the CFTR chloride channel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010506

7 January 2021

Cystic fibrosis: molecular biology and therapeutic implications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010506

7 January 2021

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010506

7 January 2021

Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010506

7 January 2021

Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010506

7 January 2021

Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010506

7 January 2021

Structural model of ATP-binding proteins associated with cystic fibrosis, multidrug resistance and bacterial transport

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010506

7 January 2021

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010506

7 January 2021

Refined crystal structure of the triphosphate conformation of H-ras p21 at 1.35 A resolution: implications for the mechanism of GTP hydrolysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010506

7 January 2021

Cystic fibrosis: a disease in electrolyte transport.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010506

7 January 2021

Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010506

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010506

7 January 2021

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010506

7 January 2021

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010506

7 January 2021

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.1380010506

7 January 2021

Effect of 5' splice site mutations on splicing of the preceding intron

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010506

7 January 2021

A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010506

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.1380010506

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010506

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010506

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380010506

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1284540%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference