14684696

Source:http://linkedlifedata.com/resource/pubmed/id/14684696

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0017337, umls-concept:C0024746, umls-concept:C0030705, umls-concept:C0205415, umls-concept:C0266464, umls-concept:C0333714, umls-concept:C0443239, umls-concept:C0456387, umls-concept:C1422411, umls-concept:C1568395, umls-concept:C1848213, umls-concept:C2003941
pubmed:issue	12
pubmed:dateCreated	2003-12-19
pubmed:databankReference	http://linkedlifedata.com/resource/pubmed/xref/OMIM/300017
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/2985087R
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Glutathione Transferase, http://linkedlifedata.com/resource/pubmed/chemical/alpha-Mannosidase
pubmed:status	MEDLINE
pubmed:month	Dec
pubmed:issn	1468-6244
pubmed:author	pubmed-author:DobynsW BWB, pubmed-author:GleesonJ GJG, pubmed-author:GuerriniRR, pubmed-author:LeeflangE PEP, pubmed-author:MarshS ESE, pubmed-author:MoraHH, pubmed-author:ParriniEE, pubmed-author:PilzDD, pubmed-author:WhelessJ WJW
pubmed:issnType	Electronic
pubmed:volume	40
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	e128
pubmed:dateRevised	2008-11-20
pubmed:meshHeading	pubmed-meshheading:14684696-Brain, pubmed-meshheading:14684696-Brain Diseases, pubmed-meshheading:14684696-Cerebral Cortex, pubmed-meshheading:14684696-Choristoma, pubmed-meshheading:14684696-Chromosome Breakage, pubmed-meshheading:14684696-Chromosome Mapping, pubmed-meshheading:14684696-Chromosomes, Human, Pair 1, pubmed-meshheading:14684696-Chromosomes, Human, Pair 6, pubmed-meshheading:14684696-DNA Mutational Analysis, pubmed-meshheading:14684696-Genetic Predisposition to Disease, pubmed-meshheading:14684696-Glutathione Transferase, pubmed-meshheading:14684696-Humans, pubmed-meshheading:14684696-Lateral Ventricles, pubmed-meshheading:14684696-Magnetic Resonance Imaging, pubmed-meshheading:14684696-Male, pubmed-meshheading:14684696-Pedigree, pubmed-meshheading:14684696-Phenotype, pubmed-meshheading:14684696-Translocation, Genetic, pubmed-meshheading:14684696-alpha-Mannosidase
pubmed:year	2003
pubmed:articleTitle	Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes.
pubmed:publicationType	Letter, Research Support, U.S. Gov't, P.H.S., Case Reports