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Article

A New Missense Mutation in the Leptin Gene Causes Mild Obesity and Hypogonadism without Affecting T Cell Responsiveness

10 Apr 2010

Abstract excerpt

OBJECTIVE: Leptin, a protein product of adipocytes, plays a critical role in the regulation of body weight, immune function, pubertal development, and fertility. So far, only three homozygous mutations in the leptin gene in a total of 13 individuals have been found leading to a phenotype of extreme obesity with marked hyperphagia and impaired immune function. DESIGN: Serum leptin was measured by ELISA. The leptin...

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Share to Adipokines, Inflammation, and Metabolic Diseases
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PMID: 20382689
DOI: 10.1210/jc.2009-2466

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