Article
Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity.
The Journal of clinical endocrinology and metabolism - 1 Jan 2005
Larsen Lesli H, Echwald Søren M, Sørensen Thorkild I A, Andersen Teis, Wulff Birgitte S, Pedersen Oluf
Abstract excerpt
Mutations in the gene encoding the melanocortin 4 receptor (MC4R) are associated with the most common monogenic form of obesity. We examined 750 Danish men with juvenile-onset obesity (body mass index 33.3 +/- 2.4 kg/m(2)) and 706 control subjects (body mass index 21.4 +/- 2.1 kg/m(2)) for mutations in MC4R. A total of 14 different mutations were identified of which two, Ala219Val and Leu325Phe, were novel...
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