IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, TGFB1
Definition : Molecular assay reagents intended to identify mutations in the transforming growth factor, beta 1 (TGFB1) gene, located at chromosome 19q13.1-q13.2, which encodes for a multifunctional protein that controls proliferative differentiation and other functions in many types of cell. This inherited genetic mutation is associated with progressive diaphyseal dysplasia type 1 (Camurati-Engelmann disease).
Entry Terms : "Camurati-Engelmann Disease Gene Mutation Reagents" , "Progressive Diaphyseal Dysplasia type 1 Gene Mutation Reagents" , "TGFB1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, TGFB1"
UMDC code : 24989