(Q41671916)

6 October 2017

A cystic fibrosis patient homozygous for the nonsense mutation R553X (English)

1 reference

Crossref

https://api.crossref.org/works/10.1136/JMG.28.10.715

28 October 2022

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682496

28 October 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.28.10.715

28 October 2022

1 reference

1

J. Bal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682496

28 October 2022

2

M. Stuhrmann

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682496

28 October 2022

author name string

M. Schloesser

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682496

28 October 2022

J. Schmidtke

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682496

28 October 2022

J. Reiss

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682496

28 October 2022

language of work or name

English

0 references

publication date

1 October 1991

1 reference

PMCID

1017062

full work available at URL

6 October 2017

https://europepmc.org/articles/PMC1017062

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682496

https://europepmc.org/articles/PMC1017062?pdf=render

28 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682496

https://syndication.highwire.org/content/doi/10.1136/jmg.28.10.715

28 October 2022

1 reference

Crossref

https://api.crossref.org/works/10.1136/JMG.28.10.715

Journal of Medical Genetics

28 October 2022

published in

1 reference

6 October 2017

28

1 reference

6 October 2017

10

1 reference

6 October 2017

715-717

1 reference

Identification of the cystic fibrosis gene: chromosome walking and jumping

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017062

Identification of the cystic fibrosis gene: genetic analysis

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017062

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017062

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=1017062

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=1017062

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=1017062

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

6 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1682496

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

8

1 reference

Crossref

https://api.crossref.org/works/10.1136/JMG.28.10.715

28 October 2022

Identifiers

1 reference

6 October 2017

1 reference

6 October 2017

1 reference

PMCID

1017062