8364592

Source:http://linkedlifedata.com/resource/pubmed/id/8364592

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0017337, umls-concept:C0020814, umls-concept:C0026705, umls-concept:C0026882, umls-concept:C0205210, umls-concept:C0439793, umls-concept:C0871599, umls-concept:C2717879
pubmed:issue	3
pubmed:dateCreated	1993-10-6
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/R01DK39891
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9215429
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/DNA, http://linkedlifedata.com/resource/pubmed/chemical/Iduronate Sulfatase
pubmed:status	MEDLINE
pubmed:issn	1059-7794
pubmed:author	pubmed-author:AndersonR ARA, pubmed-author:Anyane-YeboaKK, pubmed-author:AronovichE LEL, pubmed-author:CrottyP LPL, pubmed-author:RussoDD, pubmed-author:WarburtonDD, pubmed-author:WhitleyC BCB
pubmed:issnType	Print
pubmed:volume	2
pubmed:geneSymbol	IDS
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	235-7
pubmed:dateRevised	2009-11-19
pubmed:meshHeading	pubmed-meshheading:8364592-Amino Acid Sequence, pubmed-meshheading:8364592-Base Sequence, pubmed-meshheading:8364592-DNA, pubmed-meshheading:8364592-Genotype, pubmed-meshheading:8364592-Humans, pubmed-meshheading:8364592-Iduronate Sulfatase, pubmed-meshheading:8364592-Infant, pubmed-meshheading:8364592-Male, pubmed-meshheading:8364592-Molecular Sequence Data, pubmed-meshheading:8364592-Mucopolysaccharidosis II, pubmed-meshheading:8364592-Phenotype, pubmed-meshheading:8364592-Point Mutation
pubmed:year	1993
pubmed:articleTitle	Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene.
pubmed:affiliation	Department of Pediatrics, University of Minnesota Medical School, Minneapolis 55455.
pubmed:publicationType	Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't