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Article

Cystinosis in Eastern Turkey.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Aug 2016

Doğan Murat, Bulan Keziban, Kaba Sultan, Cesur Yaşar, Ceylaner Serdar, Ustyol Lokman

Abstract excerpt

BACKGROUND: This study was conducted to investigate CTNS (cystinosin, lysosomal cystine transporter) gene mutations and the clinical spectrum of nephropathic cystinosis among patients diagnosed with the disease in a single center in Turkey. METHODS: Patients' clinical and laboratory data were extracted from an electronic health registry. Molecular CTNS gene analysis was performed using either next-generation...

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Identifiers

PMID: 27269891
DOI: 10.1515/jpem-2014-0477

Genes

CTNS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Characterization of CTNS mutations in Arab patients with cystinosis.Semantic proximity Read ↗

Uncovering the Prevalence of Cystinosis through Genetic AnalysisSemantic proximity Read ↗

An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.Semantic proximity Read ↗

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