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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2007-1-4
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pubmed:abstractText |
OBJECTIVE/PATIENTS: Rabson-Mendenhall syndrome (RMS) is a rare, recessively inherited disorder of extreme insulin resistance due to mutations in the insulin receptor gene. We have identified a pair of siblings with RMS attributable to compound heterozygosity for two insulin receptor mutations, one previously unreported, and have characterized the novel receptor mutation functionally.
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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:month |
Jan
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pubmed:issn |
0300-0664
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
66
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
21-6
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:17201797-Animals,
pubmed-meshheading:17201797-Blotting, Western,
pubmed-meshheading:17201797-CHO Cells,
pubmed-meshheading:17201797-Case-Control Studies,
pubmed-meshheading:17201797-Cell Line, Transformed,
pubmed-meshheading:17201797-Cricetinae,
pubmed-meshheading:17201797-Cricetulus,
pubmed-meshheading:17201797-Exons,
pubmed-meshheading:17201797-Female,
pubmed-meshheading:17201797-Gene Expression,
pubmed-meshheading:17201797-Heterozygote,
pubmed-meshheading:17201797-Humans,
pubmed-meshheading:17201797-Hypoglycemic Agents,
pubmed-meshheading:17201797-Infant,
pubmed-meshheading:17201797-Insulin,
pubmed-meshheading:17201797-Insulin Resistance,
pubmed-meshheading:17201797-Mutation, Missense,
pubmed-meshheading:17201797-Protein Precursors,
pubmed-meshheading:17201797-Receptor, Insulin,
pubmed-meshheading:17201797-Syndrome,
pubmed-meshheading:17201797-Transfection
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pubmed:year |
2007
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pubmed:articleTitle |
Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome.
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pubmed:affiliation |
University of Cambridge Department of Clinical Biochemistry, Addenbrooke's Hospital, Cambridge, UK.
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pubmed:publicationType |
Journal Article,
Case Reports
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