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20142531
Source:
http://linkedlifedata.com/resource/pubmed/id/20142531
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55
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Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0026882
,
umls-concept:C0027778
,
umls-concept:C1414860
,
umls-concept:C1862939
pubmed:issue
2
pubmed:dateCreated
2010-2-9
pubmed:abstractText
To assess the frequency of FUS mutations in 52 probands with familial amyotrophic lateral sclerosis (FALS) and to provide careful documentation of clinical characteristics.
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/0372436
pubmed:citationSubset
AIM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/RNA-Binding Protein FUS
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1538-3687
pubmed:author
pubmed-author:CuppenEdwinE
,
pubmed-author:DooijesDennisD
,
pubmed-author:FumotoKatsumiK
,
pubmed-author:GroenEwout J NEJ
,
pubmed-author:OphoffRoel ARA
,
pubmed-author:PasterkampR JeroenRJ
,
pubmed-author:SchelhaasHelenius JHJ
,
pubmed-author:SplietWim G MWG
,
pubmed-author:VeldinkJan HJH
,
pubmed-author:WokkeJohn H JJH
,
pubmed-author:de VisserMarianneM
,
pubmed-author:van Engelen-LeeJooyeonJ
,
pubmed-author:van EsMichael AMA
,
pubmed-author:van VughtPaul W JPW
,
pubmed-author:van den BergLeonard HLH
pubmed:issnType
Electronic
pubmed:volume
67
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
224-30
pubmed:meshHeading
pubmed-meshheading:20142531-Adult
,
pubmed-meshheading:20142531-Aged
,
pubmed-meshheading:20142531-Amino Acid Substitution
,
pubmed-meshheading:20142531-Amyotrophic Lateral Sclerosis
,
pubmed-meshheading:20142531-DNA Mutational Analysis
,
pubmed-meshheading:20142531-Family Health
,
pubmed-meshheading:20142531-Female
,
pubmed-meshheading:20142531-Follow-Up Studies
,
pubmed-meshheading:20142531-Genetic Predisposition to Disease
,
pubmed-meshheading:20142531-Humans
,
pubmed-meshheading:20142531-Male
,
pubmed-meshheading:20142531-Middle Aged
,
pubmed-meshheading:20142531-Mutation
,
pubmed-meshheading:20142531-Netherlands
,
pubmed-meshheading:20142531-RNA-Binding Protein FUS
pubmed:year
2010
pubmed:articleTitle
FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.
pubmed:affiliation
Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Heidelberglaan, Utrecht, the Netherlands.
pubmed:publicationType
Journal Article
,
Research Support, Non-U.S. Gov't