Article
Structural and population-based evaluations of TBC1D1 p.Arg125Trp.
PloS one - 1 Jan 2013
Richardson Tom G, Thomas Elaine C, Sessions Richard B, Lawlor Debbie A, Tavaré Jeremy M, Day Ian N M
Abstract excerpt
Obesity is now a leading cause of preventable death in the industrialised world. Understanding its genetic influences can enhance insight into molecular pathogenesis and potential therapeutic targets. A non-synonymous polymorphism (rs35859249, p.Arg125Trp) in the N-terminal TBC1D1 phosphotyrosine-binding (PTB) domain has shown a replicated association with familial obesity in women. We investigated these findings...
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