18518886

Source:http://linkedlifedata.com/resource/pubmed/id/18518886

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0026703, umls-concept:C0026882, umls-concept:C0030705, umls-concept:C0032730, umls-concept:C0205314, umls-concept:C0679622, umls-concept:C1521991, umls-concept:C1825466, umls-concept:C1880022
pubmed:issue	2
pubmed:dateCreated	2008-8-14
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0253664
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Acetyltransferases, http://linkedlifedata.com/resource/pubmed/chemical/HGSNAT protein, human, http://linkedlifedata.com/resource/pubmed/chemical/RNA Splice Sites
pubmed:status	MEDLINE
pubmed:month	Aug
pubmed:issn	1399-0004
pubmed:author	pubmed-author:AlvesSS, pubmed-author:CoutinhoM FMF, pubmed-author:FerreiraCC, pubmed-author:LacerdaLL, pubmed-author:LopesLL, pubmed-author:PrataM JMJ, pubmed-author:RibeiroHH
pubmed:issnType	Electronic
pubmed:volume	74
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	194-5
pubmed:dateRevised	2009-11-19
pubmed:meshHeading	pubmed-meshheading:18518886-Acetyltransferases, pubmed-meshheading:18518886-Frameshift Mutation, pubmed-meshheading:18518886-Humans, pubmed-meshheading:18518886-Molecular Epidemiology, pubmed-meshheading:18518886-Mucopolysaccharidosis III, pubmed-meshheading:18518886-Mutation, pubmed-meshheading:18518886-Point Mutation, pubmed-meshheading:18518886-Portugal, pubmed-meshheading:18518886-RNA Splice Sites
pubmed:year	2008
pubmed:articleTitle	Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene.
pubmed:publicationType	Letter, Research Support, Non-U.S. Gov't