Stan McCarthy
University of Sydney
1 Papers
Stan McCarthy is an academic researcher from University of Sydney. The author has contributed to research in topics: Germline mutation & IDH2. The author has an hindex of 1, co-authored 1 publications.
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Papers
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2
M Fernanda Amary,Stephen Damato,Dina Halai,Malihe Eskandarpour,Fitim Berisha,Fiona Bonar,Stan McCarthy,Valeria Fantin,Kimberly Straley,Samira B Lobo,Will Aston,Claire Green,Rosemary E. Gale,Roberto Tirabosco,Andrew Futreal,Peter J. Campbell,Nadege Presneau,Adrienne M. Flanagan,Adrienne M. Flanagan +18 more
TL;DR: It is shown that in 37 of 40 individuals with these syndromes, at least one tumor has a mutation in isocitrate dehydrogenase 1 (IDH1) or in IDH2, 65% of which result in a R132C substitution in the protein.
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