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Article

Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.

The Turkish journal of pediatrics - 1 Jan 2016

Önenli-Mungan Neslihan, Kör Deniz, Karabay-Bayazıt Aysun, Cengiz Nurcan, Yavuz Sevgi, Noyan Aytül, Ceylaner Gülay, Şeker-Yılmaz Berna, Topaloğlu Ali Kemal, Yüksel Bilgin, Anarat Ali

Abstract excerpt

We have conducted this study for the purposes of demonstrating the spectrum of mutations and of identifying their effects on the phenotype, with a particular focus on the clinical course, prognosis and response to treatment. A total of 25 patients from 20 families, who have been treated and followed up after being diagnosed with cystinosis. Nine patients were identified with mutations of homozygous c.451A > G, 7...

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Identifiers

PMID: 28276207
DOI: 10.24953/turkjped.2016.04.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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