Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, USH2A

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, USH2A

Definition : Molecular assay reagents intended to identify mutations in the Usher syndrome 2A (USH2A) gene, located at chromosome 1q41, which encodes for a protein that is an important component of basement membranes and whose function is not well established. This inherited genetic mutation has been identified in patients with Usher's syndrome type 2; it is also associated with nonsyndromic retinitis pigmentosa (type 15).

Entry Terms : "Usher Syndrome Type 2A Gene Mutation Reagents" , "Nonsyndromic Retinitis Pigmentosa Gene Mutation Reagents" , "Retinitis Pigmentosa Type 15 Gene Mutation Reagents" , "USH2A Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, USH2A"

UMDC code : 25007

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