(Q41824743)

12 October 2017

Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X. (English)

1 reference

12 October 2017

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1 reference

Desgeorges M

1

1 reference

12 October 2017

Laussel M

2

1 reference

12 October 2017

Rollin B

3

1 reference

12 October 2017

Demaille J

4

1 reference

12 October 2017

Claustres M

5

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12 October 2017

language of work or name

English

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publication date

1 January 1994

1 reference

Journal of Medical Genetics

12 October 2017

1 reference

12 October 2017

31

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12 October 2017

1

1 reference

12 October 2017

84-85

1 reference

Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene

12 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049616

Premature translation termination mediates triosephosphate isomerase mRNA degradation

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049616

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049616

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049616

A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049616

Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049616

Cystic fibrosis in Bulgaria

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049616

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049616

A cystic fibrosis patient homozygous for the nonsense mutation R553X

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049616

Mild pulmonary disease in a cystic fibrosis child homozygous for R553X.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049616

Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049616

Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France

6 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7512145

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7512145

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.31.1.84-A

1 reference

12 October 2017

1 reference

12 October 2017

PubMed publication ID

7512145

1 reference