Title : Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.

Pub. Date : 2018 Jan

PMID : 29421779






3 Functional Relationships(s)
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Protein Name
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1 Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene. Cystine cystinosin, lysosomal cystine transporter Homo sapiens
2 Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene. Cystine cystinosin, lysosomal cystine transporter Homo sapiens
3 Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene. Cystine cystinosin, lysosomal cystine transporter Homo sapiens