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14627679
Source:
http://linkedlifedata.com/resource/pubmed/id/14627679
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56
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0015127
,
umls-concept:C0017337
,
umls-concept:C0019904
,
umls-concept:C0031437
,
umls-concept:C0265221
,
umls-concept:C0544885
,
umls-concept:C1314792
pubmed:issue
11
pubmed:dateCreated
2003-11-20
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/2985087R
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Codon, Nonsense
,
http://linkedlifedata.com/resource/pubmed/chemical/FKTN protein, human
,
http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins
,
http://linkedlifedata.com/resource/pubmed/chemical/Proteins
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1468-6244
pubmed:author
pubmed-author:BrunnerH GHG
,
pubmed-author:CormandBB
,
pubmed-author:CurrierSS
,
pubmed-author:DobynsW BWB
,
pubmed-author:HamelBB
,
pubmed-author:KaneBB
,
pubmed-author:TalimBB
,
pubmed-author:TopalogluHH
,
pubmed-author:Van den AkkerWW
,
pubmed-author:de BernabéD Beltrán-ValeroDB
,
pubmed-author:van BeusekomEE
,
pubmed-author:van BokhovenHH
pubmed:issnType
Electronic
pubmed:volume
40
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
845-8
pubmed:dateRevised
2008-11-20
pubmed:meshHeading
pubmed-meshheading:14627679-Brain
,
pubmed-meshheading:14627679-Codon, Nonsense
,
pubmed-meshheading:14627679-Eye Abnormalities
,
pubmed-meshheading:14627679-Female
,
pubmed-meshheading:14627679-Humans
,
pubmed-meshheading:14627679-Infant
,
pubmed-meshheading:14627679-Male
,
pubmed-meshheading:14627679-Membrane Proteins
,
pubmed-meshheading:14627679-Muscular Dystrophies
,
pubmed-meshheading:14627679-Pedigree
,
pubmed-meshheading:14627679-Phenotype
,
pubmed-meshheading:14627679-Proteins
,
pubmed-meshheading:14627679-Syndrome
pubmed:year
2003
pubmed:articleTitle
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
pubmed:publicationType
Journal Article
,
Research Support, Non-U.S. Gov't
,
Multicenter Study