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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
24
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pubmed:dateCreated |
1991-12-17
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pubmed:abstractText |
The McCune-Albright syndrome is a sporadic disease characterized by polyostotic fibrous dysplasia, café au lait spots, sexual precocity, and hyperfunction of multiple endocrine glands. These manifestations may be explained by a somatic mutation in affected tissues that results in activation of the signal-transduction pathway generating cyclic AMP (cAMP). We analyzed DNA from tissues of patients with the McCune-Albright syndrome for the presence of activating mutations of the gene for the alpha subunit of the G protein (Gs alpha) that stimulates cAMP formation.
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pubmed:commentsCorrections | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
AIM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0028-4793
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:day |
12
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pubmed:volume |
325
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pubmed:geneSymbol |
Gsalpha
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1688-95
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pubmed:dateRevised |
2010-3-24
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pubmed:meshHeading |
pubmed-meshheading:1944469-Adolescent,
pubmed-meshheading:1944469-Base Sequence,
pubmed-meshheading:1944469-Child, Preschool,
pubmed-meshheading:1944469-Exons,
pubmed-meshheading:1944469-Female,
pubmed-meshheading:1944469-Fibrous Dysplasia, Polyostotic,
pubmed-meshheading:1944469-GTP-Binding Proteins,
pubmed-meshheading:1944469-Gene Amplification,
pubmed-meshheading:1944469-Gene Expression Regulation,
pubmed-meshheading:1944469-Humans,
pubmed-meshheading:1944469-Molecular Sequence Data,
pubmed-meshheading:1944469-Mutation,
pubmed-meshheading:1944469-Signal Transduction
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pubmed:year |
1991
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pubmed:articleTitle |
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.
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pubmed:affiliation |
Molecular Pathophysiology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892.
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pubmed:publicationType |
Journal Article,
Case Reports
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