Article

A Novel Melanocortin 3 Receptor Gene (MC3R) Mutation Associated with Severe Obesity

2002-03-01

Abstract excerpt

The melanocortin 3 receptor (MC3R) plays a critical role in weight regulation as demonstrated in mouse models. We describe a novel mutation Ile183Asn (T548A) found in heterozygosity in a 13-year-old obese girl and her father. Methods: The MC3R gene was sequenced in 41 unrelated obese children, and 121 DNA samples from non-obese individuals were analysed for this novel sequence variant by allele-specific polymerase...

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Literature Corpus work: a246ca7c-4a8b-5870-b9b9-f01cbfd07b71
DOI: 10.1210/jc.87.3.1423

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