Article
The prevalence of melanocortin-4 receptor gene mutations in Slovak obese children and adolescents.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2016
Polák Emil, Vitáriušová Eva, Celec Peter, Pribilincová Zuzana, Košťálová Ľudmila, Hlavatá Anna, Kovács László, Kádaši Ľudevít
Abstract excerpt
Melanocortin-4 receptor (MC4R) deficiency is the most frequent monogenic form of obesity. The contribution of MC4R mutations to the Slovak population has not been investigated as yet. We screened the coding sequence of the MC4R gene in a cohort of 210 Slovak obese children and adolescents. We identified four different mutations in four patients, giving a mutation detection rate of 0.95%. Of these, three were...
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