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Analysis of exon 8 of ATP7B gene in Thai patients with Wilson disease

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dc.contributor.authorJesada Keandaungjuntren_US
dc.contributor.authorManisa Busabaratanaen_US
dc.contributor.authorChomsri Kositchaiwaten_US
dc.contributor.authorThanyachai Suraen_US
dc.contributor.authorTeeratorn Pulkesen_US
dc.contributor.otherMahidol Universityen_US
dc.date.accessioned2018-05-03T08:24:22Z
dc.date.available2018-05-03T08:24:22Z
dc.date.issued2011-10-01en_US
dc.description.abstractObjective: 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.en_US
dc.identifier.citationJournal of the Medical Association of Thailand. Vol.94, No.10 (2011), 1184-1188en_US
dc.identifier.issn01252208en_US
dc.identifier.other2-s2.0-84855549720en_US
dc.identifier.urihttps://repository.li.mahidol.ac.th/handle/20.500.14594/12264
dc.rightsMahidol Universityen_US
dc.rights.holderSCOPUSen_US
dc.source.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84855549720&origin=inwarden_US
dc.subjectMedicineen_US
dc.titleAnalysis of exon 8 of ATP7B gene in Thai patients with Wilson diseaseen_US
dc.typeArticleen_US
dspace.entity.typePublication
mu.datasource.scopushttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84855549720&origin=inwarden_US

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