Article
Segregation of non-p.R132H mutations in IDH1 in distinct molecular subtypes of glioma.
Human mutation - 1 Mar 2010
Gravendeel Lonneke A M, Kloosterhof Nanne K, Bralten Linda B C, van Marion Ronald, Dubbink Hendrikus Jan, Dinjens Winand, Bleeker Fonnet E, Hoogenraad Casper C, Michiels Erna, Kros Johan M, van den Bent Martin, Smitt Peter A E Sillevis, French Pim J
Abstract excerpt
Mutations in the gene encoding the isocitrate dehydrogenase 1 gene (IDH1) occur at a high frequency (up to 80%) in many different subtypes of glioma. In this study, we have screened for IDH1 mutations in a cohort of 496 gliomas. IDH1 mutations were most frequently observed in low grade gliomas with c.395G>A (p.R132H) representing >90% of all IDH1 mutations. Interestingly, non-p.R132H mutations segregate in...
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