Article

Molecular Characterization of Tunisian Cystinosis Patients Reveals a High Prevalence of the c.829dup Mutation

2025-12-22

Abstract excerpt

<title>Abstract</title> <p> Background Cystinosis is a lysosomal storage disease caused by the accumulation of intralysosomal cystine in different tissues and organs including: brain, cornea, kidneys, live and, pancreas. This pathology is due the mutations in the <italic>CTNS</italic> gene that is encoded by the cystinosin protein. The study aimed to explore the genetic and phenotypic diversity of Tunisian pa...

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Literature Corpus work: 4bae629f-6a0c-5096-aee5-dad9c3bf3c8d
DOI: 10.21203/rs.3.rs-8019908/v1

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