Article
Molecular scanning of beta-3-adrenergic receptor gene in total congenital lipoatrophic diabetes mellitus.
The Journal of clinical endocrinology and metabolism - 1 Oct 1997
Silver K, Walston J, Plotnick L, Taylor S I, Kahn C R, Shuldiner A R
Abstract excerpt
Total congenital lipoatrophic diabetes is characterized by absence of subcutaneous adipose tissue, hypertriglyceridemia, and insulin resistance. We hypothesized that mutations in the beta-3-adrenergic receptor (beta 3AR) gene might result in the lipoatrophic phenotype by preventing triglyceride storage in adipocytes; thereby, resulting in secondary insulin resistance. We screened the beta 3AR gene in 7 subjects...
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