Six novel ATP7B mutations in Thai patients with Wilson disease.

  title={Six novel ATP7B mutations in Thai patients with Wilson disease.},
  author={Benjaporn Panichareon and Krailerk Taweechue and Wanna Thongnoppakhun and Monthikan Aksornworanart and Manop Pithukpakorn and Pa-Thai Yenchitsomanus and Chanin Limwongse and Thawornchai Limjindaporn},
  journal={European journal of medical genetics},
  volume={54 2},
WD is an autosomal recessive disorder of copper transport resulting in excessive copper deposition in the liver and brain. It is caused by defects of ATP7B encoding a copper transporting P-type ATPase. To identify the mutations in ATP7B in Thai patients with WD, DHPLC analysis was applied to detect mutations and polymorphisms of the entire ATP7B gene in 19 Thai patients with WD. Mutations in ATP7B were identified in 14 of 19 patients: 2 homozygotes, 8 compound heterozygotes and 4 heterozygotes… CONTINUE READING