20211909

Source:http://linkedlifedata.com/resource/pubmed/id/20211909

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0013421, umls-concept:C0026882, umls-concept:C1414216, umls-concept:C1427163, umls-concept:C1524003, umls-concept:C1524062, umls-concept:C1833334
pubmed:issue	10
pubmed:dateCreated	2010-3-9
pubmed:abstractText	The clinical phenotype of DYT6 consists mainly of primary craniocervical dystonia. Recently, the THAP1 gene was identified as the cause of DYT6, where a total of 13 mutations have been identified in Amish-Mennonite and European families.
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/20211909-12151848, http://linkedlifedata.com/resource/pubmed/commentcorrection/20211909-12473770, http://linkedlifedata.com/resource/pubmed/commentcorrection/20211909-12883919, http://linkedlifedata.com/resource/pubmed/commentcorrection/20211909-14509662, http://linkedlifedata.com/resource/pubmed/commentcorrection/20211909-15863623, http://linkedlifedata.com/resource/pubmed/commentcorrection/20211909-17003378, http://linkedlifedata.com/resource/pubmed/commentcorrection/20211909-17360686, http://linkedlifedata.com/resource/pubmed/commentcorrection/20211909-17702011, http://linkedlifedata.com/resource/pubmed/commentcorrection/20211909-18267264, http://linkedlifedata.com/resource/pubmed/commentcorrection/20211909-18285800, http://linkedlifedata.com/resource/pubmed/commentcorrection/20211909-19182804, http://linkedlifedata.com/resource/pubmed/commentcorrection/20211909-19345147, http://linkedlifedata.com/resource/pubmed/commentcorrection/20211909-19345148, http://linkedlifedata.com/resource/pubmed/commentcorrection/20211909-9382482, http://linkedlifedata.com/resource/pubmed/commentcorrection/20211909-9750907
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0401060
pubmed:citationSubset	AIM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Apoptosis Regulatory Proteins, 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	Mar
pubmed:issn	1526-632X
pubmed:author	pubmed-author:BhatiaK PKP, pubmed-author:EdwardsMM, pubmed-author:GHOLMYA HAH, pubmed-author:HardyJJ, pubmed-author:HouldenHH, pubmed-author:MelchersAA, pubmed-author:PaudelRR, pubmed-author:SchwingenschuhPP
pubmed:issnType	Electronic
pubmed:day	9
pubmed:volume	74
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	846-50
pubmed:dateRevised	2011-7-26
pubmed:meshHeading	pubmed-meshheading:20211909-Adult, pubmed-meshheading:20211909-Age of Onset, pubmed-meshheading:20211909-Aged, pubmed-meshheading:20211909-Aged, 80 and over, pubmed-meshheading:20211909-Apoptosis Regulatory Proteins, pubmed-meshheading:20211909-Chi-Square Distribution, pubmed-meshheading:20211909-DNA Mutational Analysis, pubmed-meshheading:20211909-DNA-Binding Proteins, pubmed-meshheading:20211909-Dystonia, pubmed-meshheading:20211909-Family Health, pubmed-meshheading:20211909-Female, pubmed-meshheading:20211909-Genetic Predisposition to Disease, pubmed-meshheading:20211909-Humans, pubmed-meshheading:20211909-Male, pubmed-meshheading:20211909-Middle Aged, pubmed-meshheading:20211909-Nuclear Proteins, pubmed-meshheading:20211909-Polymorphism, Genetic
pubmed:year	2010
pubmed:articleTitle	THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.
pubmed:affiliation	University College London Institute of Neurology, Queen Square, London WC1N 3BG, England. h.houlden@ion.ucl.ac.uk
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't