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Article

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

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia - 1 Jan 2000

Jaradat Saied, Al-Rababah Bothina, Hazza Issa, Akl Kamal, Saca Edward, Al-Younis Doaa

Abstract excerpt

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 coding exons of the CTNS gene in five different Jordanian families and one family from Sudan with nephropathic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26565940
DOI: 10.1016/j.nefro.2015.09.009

Genes

CTNS

Variants

Provenance

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