Clinical and genetic analysis of pediatric patients with Wilson disease

ŞİMŞEK PAPUR Ö., Akman S. A., Terzioglu O.

TURKISH JOURNAL OF GASTROENTEROLOGY, vol.26, no.5, pp.397-403, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 26 Issue: 5
  • Publication Date: 2015
  • Doi Number: 10.5152/tjg.2015.0097
  • Journal Name: TURKISH JOURNAL OF GASTROENTEROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.397-403
  • Keywords: Mutation, Wilson disease, SNP, ATP7B, MUTATION ANALYSIS, ATP7B GENE, PATIENTS IDENTIFICATION, CHILDREN
  • Dokuz Eylül University Affiliated: Yes

Abstract

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.