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Identification of a novel inactivating mutation in Isocitrate Dehydrogenase 1 (IDH1-R314C) in a high grade astrocytoma

The majority of low-grade and secondary high-grade gliomas carry heterozygous hotspot mutations in cytosolic isocitrate dehydrogenase 1 (IDH1) or the mitochondrial variant IDH2. These mutations mostly involve Arg132 in IDH1, and Arg172 or Arg140 in IDH2. Whereas IDHs convert isocitrate to alpha-keto...

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Detalles Bibliográficos
Autores principales: van Lith, Sanne A. M., Navis, Anna C., Lenting, Krissie, Verrijp, Kiek, Schepens, Jan T. G., Hendriks, Wiljan J. A. J., Schubert, Nil A., Venselaar, Hanka, Wevers, Ron A., van Rooij, Arno, Wesseling, Pieter, Molenaar, Remco J., van Noorden, Cornelis J. F., Pusch, Stefan, Tops, Bastiaan, Leenders, William P. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4962051/
https://www.ncbi.nlm.nih.gov/pubmed/27460417
http://dx.doi.org/10.1038/srep30486