title: Analysis of exon 8 of ATP7B gene in Thai patients with Wilson disease.
abstract: OBJECTIVE
  Determine the frequency of mutations in exon 8 of ATP7B gene.
  
  
  METHODS
  The exon 8 of ATP7B gene in twenty 20 unrelated Thai patients with Wilson disease (WD) was analyzed
  
  
  RESULTS
  Three heterozygous mutations were identified in four patients. The Arg778Leu (G2333T) and 2299insC mutations have been previously reported. The authors also identified a novel missense mutation, Thr766Arg (C2297G). Despite the Arg778Leu mutation being common in East Asian populations, its frequency in Thais was only 5% in the presented patients.
  
  
  CONCLUSIONS
  Sequencing of the exon 8 of the ATP7B gene is insufficient for the diagnostic service testing in Thais.
authors.affiliation: Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Jesada
authors.initials: J
authors.lastname: Keandaungjuntr
authors.forename: Manisa
authors.initials: M
authors.lastname: Busabaratana
authors.forename: Chomsri
authors.initials: C
authors.lastname: Kositchaiwat
authors.forename: Thanyachai
authors.initials: T
authors.lastname: Sura
authors.forename: Teeratorn
authors.initials: T
authors.lastname: Pulkes
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics* / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D027682:Cation Transport Proteins / Q000235:genetics* / Q000378:metabolism; D002648:Child; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D013785:Thailand; D055815:Young Adult
chemical_list: D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases