Functional Characterization and Structural Modeling of Obesity Associated Mutations in the Melanocortin 4 Receptor

Mutations in the melanocortin 4 receptor (MC4R) gene are the most common known cause of monogenic human obesity. The MC4R gene was sequenced in 2000 subjects with severe early-onset obesity. We detected seven different nonsense and 19 nonsynonymous mutations in a total of 94 probands, some of which...

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Autori principali: Tan, Karen, Pogozheva, Irina D., Yeo, Giles S. H., Hadaschik, Dirk, Keogh, Julia M., Haskell-Leuvano, Carrie, O'Rahilly, Stephen, Mosberg, Henry I., Farooqi, I. Sadaf
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Endocrine Society 2009
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2732289/
https://ncbi.nlm.nih.gov/pubmed/18801902
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/en.2008-0721
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