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

Definition : Molecular assay reagents intended to identify mutations in the cystinosis, nephropathic (CTNS) gene, located at chromosome 17p13, which encodes for the protein cystinosin that transports cystine out of the lysosomes. Mutations at this locus have been identified in patients with several types of cystinosis, including nephropathic cystinosis (CTNS).

Entry Terms : "Ocular Type Cystinosis Gene Mutation Detection Reagents" , "Late-Onset Cystinosis Gene Mutation Detection Reagents" , "Non-Nephropathic Cystinosis Gene Mutation Detection Reagents" , "Juvenile Cystinosis Gene Mutation Detection Reagents" , "Intermediate Cystinosis Gene Mutation Detection Reagents" , "Classic Cystinosis Gene Mutation Detection Reagents" , "Infantile Cystinosis Gene Mutation Detection Reagents" , "Early Onset Cystinosis Gene Mutation Detection Reagents" , "Nephropathic Cystinosis Gene Mutation Detection Reagents" , "Fanconi Syndrome Gene Mutation Detection Reagents" , "DeToni-Debre-Fanconi Syndrome Gene Mutation Detection Reagents" , "CTNS Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, CTNS"

UMDC code : 24377

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