Publication: Analysis of exon 8 of ATP7B gene in Thai patients with Wilson disease
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Issued Date
2011-10-01
Resource Type
ISSN
01252208
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2-s2.0-84855549720
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Mahidol University
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SCOPUS
Bibliographic Citation
Journal of the Medical Association of Thailand. Vol.94, No.10 (2011), 1184-1188
Suggested Citation
Jesada Keandaungjuntr, Manisa Busabaratana, Chomsri Kositchaiwat, Thanyachai Sura, Teeratorn Pulkes Analysis of exon 8 of ATP7B gene in Thai patients with Wilson disease. Journal of the Medical Association of Thailand. Vol.94, No.10 (2011), 1184-1188. Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/12264
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Title
Analysis of exon 8 of ATP7B gene in Thai patients with Wilson disease
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Abstract
Objective: 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.