Article
Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female.
The Journal of clinical endocrinology and metabolism - 1 Dec 2003
Donohoue Patricia A, Tao Ya-Xiong, Collins Malia, Yeo Giles S H, O'Rahilly Stephen, Segaloff Deborah L
Abstract excerpt
Genetic and pharmacological studies have shown that the melanocortin-4 receptor (MC4R) is an important regulator of food intake and energy homeostasis. Consistent with these studies, several mutations of the MC4R gene have been identified as being associated with early-onset severe obesity. We report here the first in-frame deletion mutation of the MC4R gene (delta88-92) in an obese female patient with onset of...
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