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15710862
Source:
http://linkedlifedata.com/resource/pubmed/id/15710862
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0013421
,
umls-concept:C0205314
,
umls-concept:C0332281
,
umls-concept:C0596611
,
umls-concept:C0679622
,
umls-concept:C1456413
,
umls-concept:C1720416
pubmed:issue
2
pubmed:dateCreated
2005-2-15
pubmed:abstractText
Episodic ataxia type 2 (EA2) is an autosomal dominant condition that results from mutations in the CACNA1A gene. It is characterized by episodes of ataxia and nystagmus that typically last hours.
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/0372436
pubmed:citationSubset
AIM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/CACNA1A protein, human
,
http://linkedlifedata.com/resource/pubmed/chemical/Calcium Channels
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0003-9942
pubmed:author
pubmed-author:BirdThomas DTD
,
pubmed-author:MaterekLuke ALA
,
pubmed-author:SpaceySian DSD
,
pubmed-author:SzczygielskiBlajez IBI
pubmed:issnType
Print
pubmed:volume
62
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
314-6
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:15710862-Calcium Channels
,
pubmed-meshheading:15710862-DNA Mutational Analysis
,
pubmed-meshheading:15710862-Dystonia
,
pubmed-meshheading:15710862-Genetic Linkage
,
pubmed-meshheading:15710862-Humans
,
pubmed-meshheading:15710862-Male
,
pubmed-meshheading:15710862-Middle Aged
,
pubmed-meshheading:15710862-Models, Molecular
,
pubmed-meshheading:15710862-Mutation
,
pubmed-meshheading:15710862-Pedigree
,
pubmed-meshheading:15710862-Spinocerebellar Ataxias
pubmed:year
2005
pubmed:articleTitle
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
pubmed:affiliation
Division of Neurology, Brain Research Center, University of British Columbia, Vancouver, Canada. spacey@interchange.ubc.ca
pubmed:publicationType
Journal Article
,
Case Reports