(Q33683110)

28 July 2017

title

Clinical features of cystic fibrosis patients with rare genotypes (English)

1 reference

28 July 2017

0 references

Castaldo G

1

1 reference

28 July 2017

Rippa E

2

1 reference

28 July 2017

Raia V

3

1 reference

28 July 2017

Salvatore D

4

1 reference

28 July 2017

Massa C

5

1 reference

28 July 2017

de Ritis G

6

1 reference

28 July 2017

Salvatore F

7

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 January 1996

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

33

1 reference

28 July 2017

issue

1

1 reference

28 July 2017

page(s)

73-76

1 reference

CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051817

Mutation analysis in 600 French cystic fibrosis patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051817

Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051817

DNA amplification for detection of the XV-2c polymorphism linked to 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=1051817

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051817

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051817

CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051817

Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (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=1051817

A cystic fibrosis patient homozygous for the nonsense mutation R553X

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051817

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051817

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=1051817

Lung involvement, the delta F508 mutation and DNA haplotype analysis 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=1051817

A robotics-assisted procedure for large scale cystic fibrosis mutation analysis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051817

Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM-19 polymorphism

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8825054

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8825054

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.33.1.73

1 reference

release_bzk763yeircvnb2s3woirfcjxm

28 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/bzk763yeircvnb2s3woirfcjxm

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

1051817

1 reference

28 July 2017

1 reference