Publication: Cystinosis in Eastern Turkey
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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.
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Dogan M., Bulan K., Kaba S., Cesur Y., CEYLANER S., Ustyol L., -Cystinosis in Eastern Turkey-, JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.29, ss.965-969, 2016