Title : Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.

Pub. Date : 2014

PMID : 24464559






2 Functional Relationships(s)
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1 BACKGROUND: Nephropathic cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene, encoding for cystinosin, a carrier protein transporting cystine out of lysosomes. Cystine cystinosin, lysosomal cystine transporter Homo sapiens
2 BACKGROUND: Nephropathic cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene, encoding for cystinosin, a carrier protein transporting cystine out of lysosomes. Cystine cystinosin, lysosomal cystine transporter Homo sapiens