Jesada KeandaungjuntrManisa BusabaratanaChomsri KositchaiwatThanyachai SuraTeeratorn PulkesMahidol University2018-05-032018-05-032011-10-01Journal of the Medical Association of Thailand. Vol.94, No.10 (2011), 1184-1188012522082-s2.0-84855549720https://repository.li.mahidol.ac.th/handle/20.500.14594/12264Objective: Determine the frequency of mutations in exon 8 of ATP7B gene. Material and Method: 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. Conclusion: Sequencing of the exon 8 of the ATP7B gene is insufficient for the diagnostic service testing in Thais.Mahidol UniversityMedicineArticleSCOPUS