Detection of over 98% cystic fibrosis mutations in a Celtic population (Q67468975)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1284639%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

title

Detection of over 98% cystic fibrosis mutations in a Celtic population (English)

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13 September 2019

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1

C. Férec

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9 September 2022

author name string

Férec C

1

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13 September 2019

M. P. Audrezet

2

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9 September 2022

B. Mercier

3

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9 September 2022

H. Guillermit

4

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9 September 2022

P. Moullier

5

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9 September 2022

I. Quere

6

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9 September 2022

C. Verlingue

7

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9 September 2022

language of work or name

English

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National Center for Biotechnology Information

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9 September 2022

publication date

1 June 1992

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13 September 2019

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13 September 2019

volume

1

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13 September 2019

issue

3

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13 September 2019

page(s)

188-191

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https://scigraph.springernature.com/pub.10.1038/ng0692-188

13 September 2019

exact match

0 references

cites work

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

7 January 2021

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

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/10.1038%2FNG0692-188

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

7 January 2021

Altered chloride ion channel kinetics associated with the ΔF508 cystic fibrosis mutation

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

7 January 2021

cAMP-inducible chloride conductance in mouse fibroblast lines stably expressing the human cystic fibrosis transmembrane conductance regulator

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

7 January 2021

Xerophthalmia and cystic fibrosis

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

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%2FNG0692-188

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

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%2FNG0692-188

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/10.1038%2FNG0692-188

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

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/10.1038%2FNG0692-188

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/10.1038%2FNG0692-188

7 January 2021

A frame-shift mutation in the cystic fibrosis gene.

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

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%2FNG0692-188

7 January 2021

Cluster of cystic fibrosis cases in a limited area of Brittany (France)

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

7 January 2021

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

7 January 2021

[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

7 January 2021

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

7 January 2021

A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

7 January 2021

Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes.

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

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/10.1038%2FNG0692-188

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

7 January 2021

Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

7 January 2021

Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

7 January 2021

CF screening delayed for awhile, perhaps forever

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

7 January 2021

https://api.crossref.org/works/10.1038%2FNG0692-188

1 reference

7 January 2021

Screening for carriers of cystic fibrosis through primary health care services

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

7 January 2021

Mutations of the cystic fibrosis gene locus within the population of the Northwest of England

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

7 January 2021

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-188

7 January 2021

Identifiers

DOI

10.1038/NG0692-188

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1284639%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference