Article
Molecular genetics of human obesity-associated MC4R mutations.
Annals of the New York Academy of Sciences - 1 Jun 2003
Lubrano-Berthelier Cecile, Cavazos Martha, Dubern Beatrice, Shapiro Astrid, Stunff Catherine L E, Zhang Sumei, Picart Franck, Govaerts Cedric, Froguel Philippe, Bougneres Pierre, Clement Karine, Vaisse Christian
Abstract excerpt
Heterozygous coding mutations in the melanocortin 4 receptor (MC4R) are implicated in 1 to 6% of early onset or severe adult obesity cases. To better address the problem of the genotype:phenotype relationship within this specific form of obesity, we systematically studied the functional characteristics of 50 different obesity-associated MC4R mutations. Structure modeling of MC4R indicates that obesity-associated...
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