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  • 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).
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