7881431

Source:http://linkedlifedata.com/resource/pubmed/id/7881431

Download in:

Switch to

Custom View

Named Graph Language Inference

Statements in which the resource exists as a subject.
Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015295, umls-concept:C0015576, umls-concept:C0205171, umls-concept:C0265216, umls-concept:C0599155, umls-concept:C0678226, umls-concept:C0795953, umls-concept:C1416769, umls-concept:C2697317
pubmed:issue	12
pubmed:dateCreated	1995-4-13
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9208958
pubmed:citationSubset	IM
pubmed:status	MEDLINE
pubmed:month	Dec
pubmed:issn	0964-6906
pubmed:author	pubmed-author:CouckePP, pubmed-author:FransenEE, pubmed-author:Schrander-StumpelCC, pubmed-author:Van CampGG, pubmed-author:VitiVV, pubmed-author:WillemsP JPJ
pubmed:issnType	Print
pubmed:volume	3
pubmed:geneSymbol	L1CAM
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	2255-6
pubmed:dateRevised	2011-11-17
pubmed:meshHeading	pubmed-meshheading:7881431-Abnormalities, Multiple, pubmed-meshheading:7881431-Aphasia, pubmed-meshheading:7881431-Base Sequence, pubmed-meshheading:7881431-Cerebral Aqueduct, pubmed-meshheading:7881431-Female, pubmed-meshheading:7881431-Gait, pubmed-meshheading:7881431-Humans, pubmed-meshheading:7881431-Hydrocephalus, pubmed-meshheading:7881431-Intellectual Disability, pubmed-meshheading:7881431-Male, pubmed-meshheading:7881431-Molecular Sequence Data, pubmed-meshheading:7881431-Pedigree, pubmed-meshheading:7881431-Point Mutation, pubmed-meshheading:7881431-Polymorphism, Genetic, pubmed-meshheading:7881431-Sex Chromosome Aberrations, pubmed-meshheading:7881431-Syndrome, pubmed-meshheading:7881431-Thumb, pubmed-meshheading:7881431-X Chromosome
pubmed:year	1994
pubmed:articleTitle	X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.
pubmed:affiliation	Department of Medical Genetics, University of Antwerp-UIA, Belgium.
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't