Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q77729380)
Watch
English
A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration
scientific article published on 01 May 1999
In more languages
default for all languages
No label defined
No description defined
edit
Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10319888
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10319888%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
title
A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10319888
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10319888%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
main subject
X-linked adrenoleukodystrophy
1 reference
based on heuristic
inferred from title
author
Eimear Dunne
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10319888
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10319888%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
author name string
N M Hyman
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10319888
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10319888%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
S M Huson
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10319888
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10319888%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
A H Németh
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10319888
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10319888%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
publication date
1 May 1999
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10319888
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10319888%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
published in
Annals of Neurology
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10319888
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10319888%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
volume
45
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10319888
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10319888%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
issue
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10319888
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10319888%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
page(s)
652-655
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10319888
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10319888%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
cites work
Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1531-8249%28199905%2945%3A5%3C652%3A%3AAID-ANA14%3E3.0.CO%3B2-M
retrieved
21 January 2018
Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1531-8249%28199905%2945%3A5%3C652%3A%3AAID-ANA14%3E3.0.CO%3B2-M
retrieved
21 January 2018
Adrenoleukodystrophy-cerebello-brainstem dominant case
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1531-8249%28199905%2945%3A5%3C652%3A%3AAID-ANA14%3E3.0.CO%3B2-M
retrieved
21 January 2018
Adrenoleukomyeloneuropathy presenting as spinocerebellar degeneration
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1531-8249%28199905%2945%3A5%3C652%3A%3AAID-ANA14%3E3.0.CO%3B2-M
retrieved
21 January 2018
Adrenoleukodystrophy: a clinical variant presenting as olivopontocerebellar atrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1531-8249%28199905%2945%3A5%3C652%3A%3AAID-ANA14%3E3.0.CO%3B2-M
retrieved
21 January 2018
Familial spinocerebellar degeneration as an expression of adrenoleukodystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1531-8249%28199905%2945%3A5%3C652%3A%3AAID-ANA14%3E3.0.CO%3B2-M
retrieved
21 January 2018
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1531-8249%28199905%2945%3A5%3C652%3A%3AAID-ANA14%3E3.0.CO%3B2-M
retrieved
21 January 2018
Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1531-8249%28199905%2945%3A5%3C652%3A%3AAID-ANA14%3E3.0.CO%3B2-M
retrieved
21 January 2018
Genomic organization of the adrenoleukodystrophy gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1531-8249%28199905%2945%3A5%3C652%3A%3AAID-ANA14%3E3.0.CO%3B2-M
retrieved
21 January 2018
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1531-8249%28199905%2945%3A5%3C652%3A%3AAID-ANA14%3E3.0.CO%3B2-M
retrieved
21 January 2018
Identification of two new nonsense mutations Q311X and W326X in Exon 2 of the adrenoleukodystrophy (ALD) gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1531-8249%28199905%2945%3A5%3C652%3A%3AAID-ANA14%3E3.0.CO%3B2-M
retrieved
21 January 2018
Characterization and analysis of conserved motifs in a peroxisomal ATP-binding cassette transporter
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1531-8249%28199905%2945%3A5%3C652%3A%3AAID-ANA14%3E3.0.CO%3B2-M
retrieved
21 January 2018
Identifiers
DOI
10.1002/1531-8249(199905)45:5<652::AID-ANA14>3.0.CO;2-M
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10319888
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10319888%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
PubMed publication ID
10319888
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10319888
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10319888%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit