Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis

Objective: Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several body tissues due to a mutation in the CTNS gene, which encodes the cystinosin protein. The aim of this study was to sequence the codi...

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Bibliographic Details
Main Authors: Saied Jaradat, Bothina Al-Rababah, Issa Hazza, Kamal Akl, Edward Saca, Doaa Al-Younis
Format: Article
Published: Elsevier 2015-11-01
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