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...
|Main Authors:||, , , , ,|
|Series:||Nefrología (English Edition)|