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Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans.
Hinney A, Schmidt A, Nottebom K, Heibült O, Becker I, Ziegler A, Gerber G, Sina M, Görg T, Mayer H, Siegfried W, Fichter M, Remschmidt H, Hebebrand J. Hinney A, et al. Among authors: nottebom k. J Clin Endocrinol Metab. 1999 Apr;84(4):1483-6. doi: 10.1210/jcem.84.4.5728. J Clin Endocrinol Metab. 1999. PMID: 10199800
Systematic mutation screening of the pro-opiomelanocortin gene: identification of several genetic variants including three different insertions, one nonsense and two missense point mutations in probands of different weight extremes.
Hinney A, Becker I, Heibült O, Nottebom K, Schmidt A, Ziegler A, Mayer H, Siegfried W, Blum WF, Remschmidt H, Hebebrand J. Hinney A, et al. Among authors: nottebom k. J Clin Endocrinol Metab. 1998 Oct;83(10):3737-41. doi: 10.1210/jcem.83.10.5298. J Clin Endocrinol Metab. 1998. PMID: 9768693