Article
A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity.
The Journal of clinical endocrinology and metabolism - 1 Mar 2002
Lee Yung-Seng, Poh Larry Kok-Seng, Loke Kah-Yin
Abstract excerpt
UNLABELLED: 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...
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