Article
Seven novel deleterious LEPR mutations found in early-onset obesity: a ΔExon6-8 shared by subjects from Reunion Island, France, suggests a founder effect.
The Journal of clinical endocrinology and metabolism - 1 May 2015
Huvenne Hélène, Le Beyec Johanne, Pépin Dominique, Alili Rohia, Kherchiche Patricia Pigeon, Jeannic Erwan, Frelut Marie-Laure, Lacorte Jean-Marc, Nicolino Marc, Viard Amélie, Laville Martine, Ledoux Séverine, Tounian Patrick, Poitou Christine, Dubern Béatrice, Clément Karine
Abstract excerpt
CONTEXT: Infrequent mutations have been reported in the leptin receptor (LEPR) gene in humans with morbid obesity and endocrine disorders. However LEPR mutations are rarely examined in large populations from different ethnicities in a given country. OBJECTIVE: We estimated the prevalence of LEPR mutations in French patients with severe obesity and evaluated mutated patients' phenotype. DESIGN AND PATIENTS: We...
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