Neurofibromatosis type 1: diagnosis and recent advances

Abstract excerpt

IMPORTANCE OF THE FIELD: Neurofibromatosis type 1 (NF1) is a familial tumour predisposition syndrome with no current treatment regime. Neurofibromin, the NF1 gene product, is a Ras-GAP protein that downregulates Ras and when inactivated leads to increased cell growth, proliferation and eventually tumorigenesis. The Ras family proteins have a central role in cell biology and are of prime importance in cancer...

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