IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, MCOLN1
Definition : Molecular assay reagents intended to identify mutations in the mucolipin 1 (MCOLN1) gene, located at chromosome 19p13.3-13.2, which encodes a cation channel involved in lysosome exocytosis. Mutations at this locus have been identifed in patients with mucolipidosis type IV, a lysosomal storage disorder with an early onset on infants.
Entry Terms : "Mucolipidosis Type IV Gene Mutation Reagents" , "MCOLN1 Gene Mutation Detection Reagensts" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, MCOLN1"
UMDC code : 24601