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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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| 主要な著者: | , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
The Endocrine Society
2009
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| 主題: | |
| オンライン･アクセス: | 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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