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Compositions and methods for detecting Noonan syndrome

United States Patent

July 17, 2012
View the Complete Patent at the US Patent & Trademark Office
Lawrence Berkeley National Laboratory - Visit the Technology Transfer and Intellectual Property Management Department Website
Diagnostic and therapeutic applications for Noonan Syndrome are described. The diagnostic and therapeutic applications are based on certain mutations in a RAS-specific guanine nucleotide exchange factor gene SOS1 or its expression product. The diagnostic and therapeutic applications are also based on certain mutations in a serine/threonine protein kinase gene RAF1 or its expression product thereof. Also described are nucleotide sequences, amino acid sequences, probes, and primers related to RAF1 or SOS1, and variants thereof, as well as host cells expressing such variants.
Gelb; Bruce D. (New York, NY), Tartaglia; Marco (Rome, IT), Pennacchio; Len (Walnut Creek, CA)
Mount Sinai School of Medicine (New York, NY), The Regents of the University of California (Oakland, CA)
12/ 443,752
November 16, 2007
STATEMENT REGARDING FEDERALLY SPONSORED RESEARCH This invention was made with government support under Grant Nos. HL71207, HD001294 and HL074728, HL066681 awarded by the National Institutes of Health, and Contract Nos. DE-AC02-05CH11231, DE-AC52-07NA27344, and DE-AC02-06NA25396 awarded by the Department of Energy. The government has certain rights in the invention.