Clinical and genetic analysis of pediatric patients with Wilson disease
TURKISH JOURNAL OF GASTROENTEROLOGY, cilt.26, sa.5, ss.397-403, 2015 (SCI-Expanded, Scopus, TRDizin)
- 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.