Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, COL4A5

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, COL4A5

Definition : Molecular assay reagents intended to identify mutations in the collagen, type IV, alpha 5 (COL4A5) gene, located at chromosome Xq22, which encodes for the alpha 5 (IV) chain of type IV collagen that makes up a large portion of basement membranes. Mutations at this locus have been identified in patients with diseases that include Alport's syndrome and hereditary nephritis.

Entry Terms : "X-Linked Alport Syndrome (XLAS) Gene Mutation Detection Reagents" , "Hereditary Nephritis Gene Mutation Detection Reagents" , "Alport Syndrome Gene Mutation Detection Reagents" , "COL4A5 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, COL4A5"

UMDC code : 24364

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