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Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis
scientific article published on 01 January 1998
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452054
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452054%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
title
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452054
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452054%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
main subject
cystic fibrosis
1 reference
based on heuristic
inferred from title
author
Marga Nadal
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452054
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452054%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
author name string
T Casals
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452054
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452054%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
M D Ramos
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452054
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452054%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
J Giménez
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452054
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452054%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
V Nunes
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452054
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452054%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
X Estivill
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452054
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452054%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
language of work or name
English
0 references
publication date
1 January 1998
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452054
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452054%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452054
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452054%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
volume
Suppl 1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452054
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452054%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
page(s)
S99-102
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452054
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452054%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
cites work
Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110133
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110133
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110133
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Complexity in a monogenic disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110133
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110133
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110133
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Exclusive paternal origin of new mutations in Apert syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110133
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Multiplex PCR amplification of three microsatellites within the CFTR gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110133
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110133
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Physical and genetic analysis of cosmids from the vicinity of the cystic fibrosis locus.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110133
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110133
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A de Novo cystic fibrosis mutation: CGA (Arg) to TGA (stop) at codon 851 of the CFTR gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380110133
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.1380110133
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.1380110133
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452054
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452054%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
PubMed publication ID
9452054
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9452054
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452054%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 November 2019
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