Article
Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.
The Journal of clinical investigation - 1 Jan 2012
Rees Matthew G, Ng David, Ruppert Sarah, Turner Clesson, Beer Nicola L, Swift Amy J, Morken Mario A, Below Jennifer E, Blech Ilana, Mullikin James C, McCarthy Mark I, Biesecker Leslie G, Gloyn Anna L, Collins Francis S
Abstract excerpt
Defining the genetic contribution of rare variants to common diseases is a major basic and clinical science challenge that could offer new insights into disease etiology and provide potential for directed gene- and pathway-based prevention and treatment. Common and rare nonsynonymous variants in the GCKR gene are associated with alterations in metabolic traits, most notably serum triglyceride levels. GCKR encodes...
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