21110056

Source:http://linkedlifedata.com/resource/pubmed/id/21110056

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0013421, umls-concept:C0027066, umls-concept:C0030705, umls-concept:C0031437, umls-concept:C0220908, umls-concept:C1427163, umls-concept:C1833334
pubmed:issue	1
pubmed:dateCreated	2011-1-28
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9709714
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Apoptosis Regulatory Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Codon, Nonsense, http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Proteins, http://linkedlifedata.com/resource/pubmed/chemical/THAP1 protein, human
pubmed:status	MEDLINE
pubmed:month	Feb
pubmed:issn	1364-6753
pubmed:author	pubmed-author:AyaMagaliM, pubmed-author:BriceAlexisA, pubmed-author:BurbaudPierreP, pubmed-author:CamuzatAgnèsA, pubmed-author:ClotFabienneF, pubmed-author:DamierPhilippeP, pubmed-author:DefebvreLucL, pubmed-author:DerkinderenPascalP, pubmed-author:DurrAlexandraA, pubmed-author:GAUSJJ, pubmed-author:GrabliDavidD, pubmed-author:KrystkowiakPierreP, pubmed-author:LeguernEricE, pubmed-author:PollakPierreP, pubmed-author:RozeEmmanuelE, pubmed-author:VidailhetMarieM
pubmed:issnType	Electronic
pubmed:volume	12
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	87-9
pubmed:meshHeading	pubmed-meshheading:21110056-Adolescent, pubmed-meshheading:21110056-Adult, pubmed-meshheading:21110056-Aged, pubmed-meshheading:21110056-Amino Acid Substitution, pubmed-meshheading:21110056-Apoptosis Regulatory Proteins, pubmed-meshheading:21110056-Codon, Nonsense, pubmed-meshheading:21110056-DNA-Binding Proteins, pubmed-meshheading:21110056-Dystonia Musculorum Deformans, pubmed-meshheading:21110056-Female, pubmed-meshheading:21110056-Frameshift Mutation, pubmed-meshheading:21110056-Humans, pubmed-meshheading:21110056-Male, pubmed-meshheading:21110056-Middle Aged, pubmed-meshheading:21110056-Mutation, pubmed-meshheading:21110056-Mutation, Missense, pubmed-meshheading:21110056-Myoclonus, pubmed-meshheading:21110056-Nuclear Proteins, pubmed-meshheading:21110056-Phenotype, pubmed-meshheading:21110056-Sequence Deletion
pubmed:year	2011
pubmed:articleTitle	Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype.
pubmed:publicationType	Letter, Case Reports