11474210

Source:http://linkedlifedata.com/resource/pubmed/id/11474210

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0026882, umls-concept:C0205314, umls-concept:C0679622, umls-concept:C0751753, umls-concept:C1413683, umls-concept:C1524003
pubmed:issue	2
pubmed:dateCreated	2001-7-27
pubmed:databankReference	http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AC008172, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/Y15793
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0200525
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Carbamoyl-Phosphate Synthase...
pubmed:status	MEDLINE
pubmed:issn	0001-5652
pubmed:author	pubmed-author:AoshimaTT, pubmed-author:KajitaMM, pubmed-author:KikuchiSS, pubmed-author:NiwaTT, pubmed-author:SahekiTT, pubmed-author:SekidoYY, pubmed-author:ShimokataKK, pubmed-author:WatanabeKK, pubmed-author:YasudaII
pubmed:issnType	Print
pubmed:volume	52
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	99-101
pubmed:dateRevised	2004-11-17
pubmed:meshHeading	pubmed-meshheading:11474210-Carbamoyl-Phosphate Synthase (Ammonia), pubmed-meshheading:11474210-Carbamoyl-Phosphate Synthase I Deficiency Disease, pubmed-meshheading:11474210-DNA Mutational Analysis, pubmed-meshheading:11474210-Female, pubmed-meshheading:11474210-Humans, pubmed-meshheading:11474210-Infant, pubmed-meshheading:11474210-Infant, Newborn, pubmed-meshheading:11474210-Molecular Sequence Data, pubmed-meshheading:11474210-Mutation
pubmed:year	2001
pubmed:articleTitle	Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.
pubmed:affiliation	Department of Pediatrics, Nagoya University School of Medicine,Nagoya, Japan.
pubmed:publicationType	Journal Article, Case Reports