Title : CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report.

Pub. Date : 2019 Oct 31

PMID : 31672123






3 Functional Relationships(s)
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Sentence
Compound Name
Protein Name
Organism
1 Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein cystinosin. Cystine cystinosin, lysosomal cystine transporter Homo sapiens
2 Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein cystinosin. Cystine cystinosin, lysosomal cystine transporter Homo sapiens
3 CTNS mutations result in either complete absence or reduced cystine transporting function of the protein. Cystine cystinosin, lysosomal cystine transporter Homo sapiens