IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PTPN11
Definition : Molecular assay reagents intended to identify mutations in the protein tyrosine phosphatase, nonreceptor type 11 ( PTPN11) gene, located at chromosome 12q24.1, which encodes for a protein that generates signals within a cell that affect how those cells function and how often they divide. This is an oncogene. This genetic mutation has been identified in patients with Noonan's syndrome type 1, Noonan-like/multiple giant-cell lesion syndrome, and with a disease characterized by multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, and pulmonary stenosis (LEOPS) syndrome (also known as LEOPARD syndrome).
Entry Terms : "LEOPARD Syndrome Gene Mutation Reagents" , "LEOPS Syndrome Gene Mutation Reagents" , "Lesion Syndrome Gene Mutation Reagents" , "Noonan-Like/Multiple Giant-Cell Leison Syndrome Gene Mutation Reagents" , "Noonan Syndrome Type 1 Gene Mutation Reagents" , "PTPN11 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PTPN11"
UMDC code : 24930