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A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
7524915
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7524915%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
title
A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
7524915
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7524915%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
main subject
cystic fibrosis
1 reference
based on heuristic
inferred from title
author
Thilo Dörk
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
7524915
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7524915%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
author name string
Will K
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
7524915
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7524915%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
Grade K
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
7524915
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7524915%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
Krawczak M
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
7524915
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7524915%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
Tümmler B
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed ID
7524915
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7524915%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
publication date
1 January 1994
1 reference
stated in
Europe PubMed Central
PubMed ID
7524915
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7524915%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed ID
7524915
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7524915%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
volume
4
1 reference
stated in
Europe PubMed Central
PubMed ID
7524915
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7524915%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
page(s)
65-70
1 reference
stated in
Europe PubMed Central
PubMed ID
7524915
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7524915%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
issue
1
1 reference
stated in
Europe PubMed Central
PubMed ID
7524915
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7524915%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
cites work
Generation of cAMP-Activated Chloride Currents by Expression of CFTR
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gene regulation by steroid hormones
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A suggested nomenclature for designating mutations.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lymphocyte mRNA as a resource for detection of mutations and polymorphisms in the CF gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cystic fibrosis: molecular biology and therapeutic implications
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A 22-bp deletion in the coding region of the cystic fibrosis gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A donor splice mutation (405 + 1 G → A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
CFTR illegitimate transcription in lymphoid cells: quantification and applications to the investigation of pathological transcripts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Isolation of high-molecular-weight DNA from mammalian cells.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Abnormal mRNA splicing resulting from three different mutations in the CFTR gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of the cystic fibrosis gene: genetic analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Model for the participation of quasi-palindromic DNA sequences in frameshift mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of the cystic fibrosis gene: chromosome walking and jumping
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G-->T and 711 + 1G-->T mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040111
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.1380040111
1 reference
stated in
Europe PubMed Central
PubMed ID
7524915
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7524915%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
PubMed ID
7524915
1 reference
stated in
Europe PubMed Central
PubMed ID
7524915
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7524915%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
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