Clinical, Genetic, and Functional Characterization of Adrenocorticotropin Receptor Mutations Using a Novel Receptor Assay
نویسندگان
چکیده
منابع مشابه
Functional characterization of novel melanocortin-3 receptor mutations identified from obese subjects.
It is controversial whether mutation in the melancortin-3 receptor (MC3R) gene is a cause for monogenic obesity in humans. Three novel mutations in the MC3R, A293T, I335S, and X361S, were identified from morbidly obese subjects. We investigated whether these mutations caused loss-of-function and the molecular defects if any. Ligand binding, signaling, and cell surface expression of the mutant M...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2002
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2002-020501