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English
Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease
scientific article published on 01 April 1994
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
7519941
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7519941%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
title
Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
7519941
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7519941%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
main subject
Pelizaeus-Merzbacher disease
1 reference
based on heuristic
inferred from title
author name string
Ellis D
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
7519941
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7519941%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
Malcolm S
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
7519941
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7519941%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
publication date
1 April 1994
1 reference
stated in
Europe PubMed Central
PubMed ID
7519941
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7519941%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
published in
Nature Genetics
1 reference
stated in
Europe PubMed Central
PubMed ID
7519941
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7519941%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
volume
6
1 reference
stated in
Europe PubMed Central
PubMed ID
7519941
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7519941%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
page(s)
333-334
1 reference
stated in
Europe PubMed Central
PubMed ID
7519941
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7519941%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
issue
4
1 reference
stated in
Europe PubMed Central
PubMed ID
7519941
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7519941%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
exact match
https://scigraph.springernature.com/pub.10.1038/ng0494-333
0 references
cites work
The leukodystrophies: a window to myelin
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0494-333
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new mutation in the proteolipid protein (PLP) gene in a German family with pelizaeus-merzbacher disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0494-333
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0494-333
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0494-333
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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%2FNG0494-333
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0494-333
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0494-333
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0494-333
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%2FNG0494-333
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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%2FNG0494-333
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0494-333
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0494-333
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0494-333
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/NG0494-333
1 reference
stated in
Europe PubMed Central
PubMed ID
7519941
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7519941%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
PubMed ID
7519941
1 reference
stated in
Europe PubMed Central
PubMed ID
7519941
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7519941%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
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