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Article

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

BMC nephrology - 31 Oct 2019

Papizh Svetlana, Serzhanova Victoria, Filatova Alexandra, Skoblov Mikhail, Tabakov Vyacheslav, van den Heuvel Lambert, Levtchenko Elena, Prikhodina Larisa

Abstract excerpt

BACKGROUND: Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein cystinosin. CTNS mutations result in either complete absence or reduced cystine transporting function of the protein. The diagnosis of nephropathic cystinosis is...

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Identifiers

PMID: 31672123
DOI: 10.1186/s12882-019-1589-2
PMCID: PMC6822415

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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