17496194

Source:http://linkedlifedata.com/resource/pubmed/id/17496194

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0017262, umls-concept:C0022716, umls-concept:C0268353, umls-concept:C1412688, umls-concept:C1705241, umls-concept:C1705242, umls-concept:C1837526
pubmed:issue	8
pubmed:dateCreated	2007-8-3
pubmed:abstractText	Pronounced intrafamilial variability is unusual in Menkes disease and its variants. We report two unrelated families featuring affected members with unusually disparate clinical and biochemical phenotypes and explore the underlying molecular mechanisms.
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/17496194, http://linkedlifedata.com/resource/pubmed/commentcorrection/17496194-10401004, http://linkedlifedata.com/resource/pubmed/commentcorrection/17496194-12114529, http://linkedlifedata.com/resource/pubmed/commentcorrection/17496194-1301191, http://linkedlifedata.com/resource/pubmed/commentcorrection/17496194-15238919, http://linkedlifedata.com/resource/pubmed/commentcorrection/17496194-16365053, http://linkedlifedata.com/resource/pubmed/commentcorrection/17496194-17108763, http://linkedlifedata.com/resource/pubmed/commentcorrection/17496194-7687955, http://linkedlifedata.com/resource/pubmed/commentcorrection/17496194-7842019, http://linkedlifedata.com/resource/pubmed/commentcorrection/17496194-7992686, http://linkedlifedata.com/resource/pubmed/commentcorrection/17496194-8434878, http://linkedlifedata.com/resource/pubmed/commentcorrection/17496194-8490647, http://linkedlifedata.com/resource/pubmed/commentcorrection/17496194-8490659, http://linkedlifedata.com/resource/pubmed/commentcorrection/17496194-8526465, http://linkedlifedata.com/resource/pubmed/commentcorrection/17496194-8812725, http://linkedlifedata.com/resource/pubmed/commentcorrection/17496194-9246006
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/2985087R
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/ATP7A protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Adenosine Triphosphatases, http://linkedlifedata.com/resource/pubmed/chemical/Cation Transport Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Copper
pubmed:status	MEDLINE
pubmed:month	Aug
pubmed:issn	1468-6244
pubmed:author	pubmed-author:BassukAlexanderA, pubmed-author:DonsanteAnthonyA, pubmed-author:GodwinSarah CSC, pubmed-author:GoldsteinDavid SDS, pubmed-author:HolmesCourtney SCS, pubmed-author:KalerStephen GSG, pubmed-author:TangJingrongJ
pubmed:issnType	Electronic
pubmed:volume	44
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	492-7
pubmed:dateRevised	2010-9-15
pubmed:meshHeading	pubmed-meshheading:17496194-Adenosine Triphosphatases, pubmed-meshheading:17496194-Cation Transport Proteins, pubmed-meshheading:17496194-Cell Line, pubmed-meshheading:17496194-Cerebellum, pubmed-meshheading:17496194-Child, Preschool, pubmed-meshheading:17496194-Copper, pubmed-meshheading:17496194-DNA Mutational Analysis, pubmed-meshheading:17496194-Family, pubmed-meshheading:17496194-Gene Expression Regulation, pubmed-meshheading:17496194-Genetic Complementation Test, pubmed-meshheading:17496194-Genetic Variation, pubmed-meshheading:17496194-Humans, pubmed-meshheading:17496194-Infant, pubmed-meshheading:17496194-Male, pubmed-meshheading:17496194-Menkes Kinky Hair Syndrome, pubmed-meshheading:17496194-Occipital Lobe, pubmed-meshheading:17496194-Reverse Transcriptase Polymerase Chain Reaction, pubmed-meshheading:17496194-Siblings, pubmed-meshheading:17496194-Transcription, Genetic
pubmed:year	2007
pubmed:articleTitle	Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.
pubmed:affiliation	Unit on Pediatric Genetics, Laboratory of Clinical Genomics, National Institute of Child Health and Human Development, Bethesda, MD20892-1832, USA.
pubmed:publicationType	Journal Article, Case Reports, Research Support, N.I.H., Intramural