11058910

Source:http://linkedlifedata.com/resource/pubmed/id/11058910

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015576, umls-concept:C0017920, umls-concept:C0039260, umls-concept:C0152035, umls-concept:C0205314, umls-concept:C0205396, umls-concept:C0599155, umls-concept:C0679622, umls-concept:C1414892
pubmed:issue	5
pubmed:dateCreated	2000-11-6
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9215429
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Glucose-6-Phosphatase, http://linkedlifedata.com/resource/pubmed/chemical/Histidine, http://linkedlifedata.com/resource/pubmed/chemical/Leucine
pubmed:status	MEDLINE
pubmed:month	Nov
pubmed:issn	1098-1004
pubmed:author	pubmed-author:FOXRR, pubmed-author:LeeC CCC, pubmed-author:TsaiC HCH, pubmed-author:TsaiF JFJ, pubmed-author:WuM CMC
pubmed:issnType	Electronic
pubmed:volume	16
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	447
pubmed:dateRevised	2006-11-15
pubmed:meshHeading	pubmed-meshheading:11058910-Alternative Splicing, pubmed-meshheading:11058910-China, pubmed-meshheading:11058910-Female, pubmed-meshheading:11058910-Glucose-6-Phosphatase, pubmed-meshheading:11058910-Glycogen Storage Disease Type I, pubmed-meshheading:11058910-Histidine, pubmed-meshheading:11058910-Humans, pubmed-meshheading:11058910-Leucine, pubmed-meshheading:11058910-Male, pubmed-meshheading:11058910-Mutation, Missense, pubmed-meshheading:11058910-Nuclear Family, pubmed-meshheading:11058910-Taiwan
pubmed:year	2000
pubmed:articleTitle	A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease).
pubmed:affiliation	Department of Medical Research, China Medical College Hospital, Taichung, Taiwan.
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't