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The gene for von Recklinghausen neurofibromatosis(NFI)was recently identified by positional cloning and found to code for a large, ubiquitously expressed protein.This protein has both structural and functional similarity to a family of proteins with guanosine triphosphatase-activating properties,involved in the regulation of the protooncogene ras.One of the postulated functions of the NFI gene product may relate to its ability to regulate ras-mediated cell proliferation. Selective pharmacotherapy directed at downregulating ras may be of benefit to patients with NFI. |
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