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PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?
scientific article published on January 1997
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
8988161
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8988161%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
title
PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
8988161
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8988161%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
author
Rolf Adolfsson
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
8988161
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8988161%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
author name string
Nelis E
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
8988161
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8988161%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
Holmberg B
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
8988161
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8988161%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
Holmgren G
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
8988161
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8988161%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
van Broeckhoven C
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed ID
8988161
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8988161%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
language of work or name
English
0 references
publication date
1 January 1997
1 reference
stated in
Europe PubMed Central
PubMed ID
8988161
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8988161%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
published in
Nature Genetics
1 reference
stated in
Europe PubMed Central
PubMed ID
8988161
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8988161%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
volume
15
1 reference
stated in
Europe PubMed Central
PubMed ID
8988161
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8988161%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
page(s)
13-14
1 reference
stated in
Europe PubMed Central
PubMed ID
8988161
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8988161%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
issue
1
1 reference
stated in
Europe PubMed Central
PubMed ID
8988161
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8988161%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
exact match
https://scigraph.springernature.com/pub.10.1038/ng0197-13
0 references
cites work
Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-13
retrieved
21 January 2018
The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-13
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-13
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-13
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-13
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-13
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-13
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-13
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-13
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-13
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-13
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Charcot-Marie-Tooth disease in northern Sweden: an epidemiological and clinical study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-13
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: its relation to the demyelinating peripheral neuropathy CMT1A.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-13
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/NG0197-13
1 reference
stated in
Europe PubMed Central
PubMed ID
8988161
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8988161%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
Dimensions Publication ID
1026949117
0 references
PubMed ID
8988161
1 reference
stated in
Europe PubMed Central
PubMed ID
8988161
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8988161%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
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