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Article

Clinical and genetic analysis of pediatric patients with Wilson disease.

The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology - 1 Sept 2015

Şimşek Papur Özlenen, Aşık Akman Sezin, Terzioğlu Orhan

Abstract excerpt

BACKGROUND/AIMS: Wilson disease (WD, MIM# 277900) is an autosomal recessive disorder of copper transport resulting from the defective function of a copper transporting P-type ATPase. Detecting mutations and single nucleotide polymorphisms (SNPs) of the ATP7B gene in Turkish pediatric WD patients (n=32) and controls (n=52) is the aim of this research. MATERIALS AND METHODS: For screening mutations and SNPs of the...

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PMID: 26215059
DOI: 10.5152/tjg.2015.0097

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