Identification and functional characterization of novel mutations in the melanocortin-4 receptor.

doi:10.1159/000321565

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Article

Identification and functional characterization of novel mutations in the melanocortin-4 receptor.

Obesity facts - 1 Oct 2010

Beckers Sigri, Zegers Doreen, de Freitas Fenna, Peeters Armand V, Verhulst Stijn L, Massa Guy, Van Gaal Luc F, Timmermans Jean-Pierre, Desager Kristine N, Van Hul Wim

Abstract excerpt

OBJECTIVE: Melanocortin-4 receptor (MC4R) deficiency is the most common cause of monogenic obesity. In the present study, we screened the MC4R gene for mutations in a population of overweight and obese children and adolescents. METHOD: Cross-sectional mutation analysis of 112 overweight/obese children and adolescents and 121 lean individuals. RESULTS: We identified 11 sequence variations, 5 of which were present...

Topics

Adolescent
Adult
Animals
Belgium
Body Mass Index
Body Weight
COS Cells
Case-Control Studies
Child
Chlorocebus aethiops
Cross-Sectional Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

DNA Mutational Analysis

Female

Genetic Predisposition to Disease

Humans

Male

Microscopy, Confocal

Mutation

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Open in PubMed Open full text

Identifiers

PMID: 20975296
DOI: 10.1159/000321565
PMCID: PMC6452105

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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