15334737

Source:http://linkedlifedata.com/resource/pubmed/id/15334737

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0030705, umls-concept:C0175683, umls-concept:C0332307, umls-concept:C1623038, umls-concept:C1825092
pubmed:issue	4
pubmed:dateCreated	2004-8-30
pubmed:abstractText	A 17-month-old girl with type I classical citrullinaemia (CTLN1) presenting with early cirrhosis and unusual ultrastructural features of the liver is reported. The patient is homozygous for a splicing mutation in intron 15 of the argininosuccinate synthase gene.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7910918
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Argininosuccinate Synthase
pubmed:status	MEDLINE
pubmed:issn	0141-8955
pubmed:author	pubmed-author:AtillaPP, pubmed-author:Ca?larMM, pubmed-author:GüçerSS, pubmed-author:IgalGG, pubmed-author:TokatliAA
pubmed:issnType	Print
pubmed:volume	27
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	541-2
pubmed:dateRevised	2007-3-21
pubmed:meshHeading	pubmed-meshheading:15334737-Argininosuccinate Synthase, pubmed-meshheading:15334737-Citrullinemia, pubmed-meshheading:15334737-Female, pubmed-meshheading:15334737-Homozygote, pubmed-meshheading:15334737-Humans, pubmed-meshheading:15334737-Infant, pubmed-meshheading:15334737-Introns, pubmed-meshheading:15334737-Liver Cirrhosis, pubmed-meshheading:15334737-Mutation, pubmed-meshheading:15334737-RNA Splicing
pubmed:year	2004
pubmed:articleTitle	Early cirrhosis in a patient with type I citrullinaemia (CTLN1).
pubmed:affiliation	Department of Pediatric Pathology, Hacettepe University Faculty of Medicine, Ankara, Turkey. sgucer@hacettepe.edu.tr
pubmed:publicationType	Journal Article, Case Reports