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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2010-9-15
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pubmed:abstractText |
Smith-Magenis Syndrome is a contiguous gene syndrome in which the dosage sensitive gene has been identified: the Retinoic Acid Induced 1 (RAI1). Little is known about the function of human RAI1.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1471-2199
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
11
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
63
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pubmed:meshHeading |
pubmed-meshheading:20738874-Animals,
pubmed-meshheading:20738874-Cell Line,
pubmed-meshheading:20738874-Chromosome Mapping,
pubmed-meshheading:20738874-DNA Mutational Analysis,
pubmed-meshheading:20738874-Gene Dosage,
pubmed-meshheading:20738874-Genes, Reporter,
pubmed-meshheading:20738874-Humans,
pubmed-meshheading:20738874-Mice,
pubmed-meshheading:20738874-Molecular Sequence Data,
pubmed-meshheading:20738874-Mutation,
pubmed-meshheading:20738874-Smith-Magenis Syndrome,
pubmed-meshheading:20738874-Trans-Activators,
pubmed-meshheading:20738874-Transcription Factors
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pubmed:year |
2010
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pubmed:articleTitle |
Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome.
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pubmed:affiliation |
John P Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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