Reagents, Molecular Assay, Gene Anomaly, Mutation, COL11A1
Definition : Molecular assay reagents intended to identify mutations in the collagen type XI, alpha1 (COL11A1) gene, located at chromosome 1p21, which encodes for the pro alpha 1 polypeptide chain of collagen XI that adds structure and strength to the connective tissues that support the body's muscles, organs, and skin. Mutations at this locus have been identified in patients with early-onset Stickler syndrome type II and Marshall syndrome.
Entry Terms : "Marshall Syndrome Gene Mutation Detection Reagents" , "Stickler Syndrome Type II Gene Mutation Detection Reagents" , "COL11A1 Gene Mutation Detection Reagents"
UMDC code : 24354