Analysis of exon 8 of ATP7B gene in Thai patients with Wilson disease
Keandaungjuntr, J.; Busabaratana, M.; Kositchaiwat, C.; Sura, T.; Pulkes, T.
Journal of the Medical Association of Thailand 94(10): 1184-1188
2011
ISSN/ISBN: 0125-2208 PMID: 22145502 Document Number: 10936
Determine the frequency of mutations in exon 8 of ATP7B gene. The exon 8 of ATP7B gene in twenty 20 unrelated Thai patients with Wilson disease (WD) was analyzed 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. Sequencing of the exon 8 of the ATP7B gene is insufficient for the diagnostic service testing in Thais.
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