Article
A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.
Journal of neurochemistry - 1 Dec 2015
Esposito Teresa, Piluso Giulio, Saracino Dario, Uccello Rossella, Schettino Carla, Dato Clemente, Capaldo Guglielmo, Giugliano Teresa, Varriale Bruno, Paolisso Giuseppe, Di Iorio Giuseppe, Melone Mariarosa A B
Abstract excerpt
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition caused by dominant loss-of-function mutations of the tumor suppressor gene NF1 that encodes neurofibromin, a negative regulator of RAS activity. Mutation analysis of NF1 located at 17q11.2 has been hampered by the large size of the gene, the high rate of new mutations, the lack of mutational clustering, and the presence of several...
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