The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, vol.12, no.10, pp.1634-1641, 2017 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 12 Issue: 10
- Publication Date: 2017
- Doi Number: 10.2215/cjn.00180117
- Journal Name: CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.1634-1641
- Open Archive Collection: AVESIS Open Access Collection
- Hacettepe University Affiliated: Yes
Abstract
Background and objectives Infantile nephropathic cystinosis is a severe disease that occurs due to mutations in the cystinosis gene, and it is characterized by progressive dysfunction of multiple organs; >100 cystinosis gene mutations have been identified in multiple populations. Our study aimed to identify the clinical characteristics and spectrum of cystinosis gene mutations in Turkish pediatric patients with cystinosis.