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Article

The first molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran.

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia - 1 Jan 2013

Shahkarami Sepideh, Galehdari Hamid, Ahmadzadeh Ali, Babaahmadi Mahnaz, Pedram Mohammad

Abstract excerpt

OBJECTIVE: Nephropatic Cystinosis (NC) is a rare metabolic disorder due to mutation in the CTNS gene in which more than 90 different mutations have already been reported so far. This study was performed to investigate mutations of the CTNS gene and its promoter in a number of Iranian patients with NC. METHODS: Polymerase chain reaction and direct sequencing were performed for molecular characterization of the...

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Identifiers

PMID: 23640116
DOI: 10.3265/Nefrologia.pre2012.Sep.11558

Genes

CTNS

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