(Q33677715)

28 July 2017

title

Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D (English)

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28 July 2017

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R B Parad

1

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28 July 2017

language of work or name

English

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publication date

1 August 1996

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

33

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28 July 2017

issue

8

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28 July 2017

page(s)

711-713

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Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

28 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050710

Cystic fibrosis transmembrane conductance regulator mutations that disrupt nucleotide binding

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050710

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050710

Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050710

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050710

Genetic determination of exocrine pancreatic function in cystic fibrosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050710

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

21 June 2018

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12 December 2020

A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations

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12 December 2020

Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs

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12 December 2020

A mutation in CFTR produces different phenotypes depending on chromosomal background

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12 December 2020

Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysis

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12 December 2020

Identifiers

DOI

10.1136/JMG.33.8.711

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28 July 2017

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28 July 2017

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