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

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

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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
Language:English
Published: Elsevier 2015-11-01
Series:Nefrología (English Edition)
Subjects:
Nephropathic cystinosis
CTNS mutations
Cystinosin
Jordan
Middle East
Online Access:http://www.sciencedirect.com/science/article/pii/S2013251415001030

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