Article
Profound obesity associated with a balanced translocation that disrupts the SIM1 gene.
Human molecular genetics - 1 Jan 2000
Holder J L, Butte N F, Zinn A R
Abstract excerpt
Studies of mice and humans have revealed a number of genes that when mutated result in severe obesity. We have studied a unique girl with early-onset obesity and a de novo balanced translocation between chromosomes 1p22.1 and 6q16.2. Her weight gain is most likely due to excessive food intake, since measured energy expenditure was normal. We cloned and sequenced both translocation breakpoints. The translocation...
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