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Genetic analysis of two Iranian patients affected with cystinosis identified a novel CTNS mutation: case report
  • fatemeh sarlaki,
  • Saeid Morovvati
fatemeh sarlaki
Shahid Beheshti University of Medical Sciences

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Saeid Morovvati
Islamic Azad University Tehran Medical Sciences
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Two Iranian patients presented in this study was suffering from cystinosis diagnosed based on their clinical symptoms and laboratory tests. The variations c.257_258delCT and c.323delA in the CTNS gene found in them are frameshifts and truncating mutations that affect product function and result in the signs and symptoms of cystinosis.