Article

Genetic analysis of two Iranian patients affected with cystinosis identified a novel CTNS mutation: case report

2022-01-03

Abstract excerpt

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.

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Literature Corpus work: ddab1d15-222b-53b1-8259-47683e2ba718
DOI: 10.22541/au.164119323.39952354/v1

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