COMPOSITIONS AND METHODS FOR DETECTING NOONAN SYNDROME
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United States of America Patent
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Jan 15, 2015
app pub date -
Jun 20, 2014
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Nov 16, 2006
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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 RAFl 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.
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