Article
A novel mutation Thr162Arg of the melanocortin 4 receptor gene in a Spanish children and adolescent population.
Clinical endocrinology - 1 May 2007
Ochoa M C, Azcona C, Biebermann H, Brumm H, Razquin C, Wermter A-K, Martínez J A, Hebebrand J, Hinney A, Moreno-Aliaga M J, Marti A, Patiño A, Chueca M, Oyarzabal M, Pelach R
Abstract excerpt
OBJECTIVE: The melanocortin 4 receptor gene (MC4R) is involved in body weight regulation. While many studies associated MC4R mutations with childhood obesity, information on MC4R mutations in Spanish children and adolescents is lacking. Our objective was to screen a population of children and adolescents from the north of Spain (Navarra) for MC4R mutations and to study the phenotypes of carriers and their...
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