NOONAN SYNDROME GENE

摘要

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. Also described are nucleotide sequences, amino acid sequences, probes, and primers related to PTPN11 and PTP11 variants, and cells expressing such variants.