Noonan syndrome gene

Details Noonan syndrome gene Noonan syndrome gene

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01) C12Q 1/42 (2006.01) C12N 9/16 (2006.01) C12N 15/55 (2006.01)

Patent

CA 2495529

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.

L'invention concerne des applications diagnostiques et thérapeutiques visant le syndrome de Noonan. Les applications diagnostiques et thérapeutiques sont basées sur certaines mutations dans le gène des protéines tyrosine phosphatase <i>PTPN11</i> et sur son produit d'expression <i>PTPN11</i>. L'invention décrit aussi des séquences nucléotidiques, des séquences d'acides amines, des sondes et des amorces liées à <i>PTPN11</i> et aux variants de <i>PTP11</i> ainsi que des cellules exprimant ces variants.

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