The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis


TOPALOĞLU R., Gulhan B., Inozu M., Canpolat N., Yilmaz A., Noyan A., ...Daha Fazla

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, cilt.12, ss.1634-1641, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 12 Konu: 10
  • Basım Tarihi: 2017
  • Doi Numarası: 10.2215/cjn.00180117
  • Dergi Adı: CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
  • Sayfa Sayıları: ss.1634-1641

Özet

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.