What do we know about IDH1/2 mutations so far, and how do we use it?
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ABSTRACT:
SUBMITTER: Horbinski C
PROVIDER: S-EPMC3633675 | biostudies-literature | 2013 May
REPOSITORIES: biostudies-literature
Publications
What do we know about IDH1/2 mutations so far, and how do we use it?
Acta neuropathologica 20130320 5
Whole genome analyses have facilitated the discovery of clinically relevant genetic alterations in a variety of diseases, most notably cancer. A prominent example of this was the discovery of mutations in isocitrate dehydrogenases 1 and 2 (IDH1/2) in a sizeable proportion of gliomas and some other neoplasms. Herein the normal functions of these enzymes, how the mutations alter their catalytic properties, the effects of their D-2-hydroxyglutarate metabolite, technical considerations in diagnostic ...[more]
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