Spectrum of mutations in cystic fibrosis (Q40485143)

20 September 2017

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title

Spectrum of mutations in cystic fibrosis (English)

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20 September 2017

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G. R. Cutting

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:7680032

12 August 2024

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=7680032

12 August 2024

publication date

1 February 1993

1 reference

full work available at URL

20 September 2017

http://link.springer.com/content/pdf/10.1007/BF00768062.pdf

1 reference

http://link.springer.com/article/10.1007/BF00768062/fulltext.html

12 August 2024

1 reference

http://link.springer.com/content/pdf/10.1007/BF00768062

12 August 2024

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Journal of Bioenergetics and Biomembranes

12 August 2024

published in

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20 September 2017

volume

25

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20 September 2017

issue

1

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20 September 2017

page(s)

7-10

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Mild cystic fibrosis in a consanguineous family

20 September 2017

cites work

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Crossref

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 January 2018

1 reference

12 December 2020

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

12 December 2020

Chloride Conductance Expressed by ΔF508 and Other Mutant CFTRs In Xenopus Oocytes

1 reference

12 December 2020

Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Benign missense variations in the cystic fibrosis gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Worldwide survey of the delta F508 mutation--report from the cystic fibrosis genetic analysis consortium

1 reference

12 December 2020

Genetic determination of exocrine pancreatic function in cystic fibrosis

1 reference

12 December 2020

Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

1 reference

12 December 2020

A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium

1 reference

12 December 2020

Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population

1 reference

12 December 2020

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

12 December 2020

Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG)

1 reference

12 December 2020

Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene

1 reference

12 December 2020

Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians

1 reference

12 December 2020

Cystic fibrosis: molecular biology and therapeutic implications

1 reference

12 December 2020

CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells

1 reference

12 December 2020

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

1 reference

12 December 2020

CFTR protein expression in primary and cultured epithelia

1 reference

12 December 2020

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene

1 reference

12 December 2020

Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00768062

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20 September 2017

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