Is a
Patent attributes
Patent Jurisdiction
Patent Number
Patent Inventor Names
Bruce D. Gelb0
Marco Tartaglia0
Date of Patent
February 26, 2008
0Patent Application Number
102625520
Date Filed
October 1, 2002
0Patent Primary Examiner
Patent abstract
Diagnostic and therapeutic applications for Noonan Syndrome are described. The diagnostic and therapeutic applications are based on certain mutations in the protein tyrosine phosphatase gene PTPN11 and its expression product, PTPN11, as well as mutations in other components in a PTPN11 signal transduction pathway promoting an increased signaling flux. Also described are nucleotide sequences, amino acid sequences, probes, and primers related to PTPN11 and PTPN11 variants, and cells expressing such variants.
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