Clinical and genetic analysis of pediatric patients with Wilson disease

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

TURKISH JOURNAL OF GASTROENTEROLOGY, cilt.26, sa.5, ss.397-403, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 26 Sayı: 5
  • Basım Tarihi: 2015
  • Doi Numarası: 10.5152/tjg.2015.0097
  • Dergi Adı: TURKISH JOURNAL OF GASTROENTEROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.397-403
  • Anahtar Kelimeler: Mutation, Wilson disease, SNP, ATP7B
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.