Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes

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...

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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2011
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3248284/
https://ncbi.nlm.nih.gov/pubmed/22182842
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI46425
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