Title : An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.

Pub. Date : 2021 Nov

PMID : 34237326






2 Functional Relationships(s)
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1 Nephropathic cystinosis is a rare disease secondary to recessive mutations of the CTNS gene encoding the lysosomal cystine transporter cystinosin, causing accumulation of cystine in multiple organs. Cystine cystinosin, lysosomal cystine transporter Homo sapiens
2 Nephropathic cystinosis is a rare disease secondary to recessive mutations of the CTNS gene encoding the lysosomal cystine transporter cystinosin, causing accumulation of cystine in multiple organs. Cystine cystinosin, lysosomal cystine transporter Homo sapiens