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Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency
DC Field | Value | Language |
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dc.contributor.author | Ko, Dae-Hyun | - |
dc.contributor.author | Chang, Ho Eun | - |
dc.contributor.author | Park, Kyoung Un | - |
dc.contributor.author | Song, Sang Hoon | - |
dc.contributor.author | Song, Young-Han | - |
dc.contributor.author | Lee, Dong Hwan | - |
dc.contributor.author | Song, Junghan | - |
dc.contributor.author | Hong, Yong Hee | - |
dc.contributor.author | Kim, Min-Chang | - |
dc.contributor.author | Kim, Jin Q | - |
dc.date.accessioned | 2012-05-22T08:43:55Z | - |
dc.date.available | 2012-05-22T08:43:55Z | - |
dc.date.issued | 2010-10-09 | - |
dc.identifier.citation | CLINICA CHIMICA ACTA; Vol.411 19-20; 1506-1510 | ko_KR |
dc.identifier.issn | 0009-8981 | - |
dc.identifier.uri | https://hdl.handle.net/10371/76256 | - |
dc.description.abstract | Background: Three different types of galactosemia have been described, and the most common form occurs due to a deficiency in the galactose-1-phosphate uridyltransferase (GALT) enzyme activity. Methods: To investigate the molecular defects of the GALT gene, PCR-direct sequencing was performed with genomic DNA from 18 Korean patients with reduced GALT activity. Results: Of the 18 patients tested, 13 (72.2%) had previously reported variants: Duarte variant (12 patients), p.R201H (1 patient), and g.A1962G. In addition, we identified six novel sequence variations by PCR-direct sequencing: five sequence variations in coding regions (p.H31R, p.L116I, p.Q169H. p.H186P and p.R333R), and one in an intron (g.2621A>G). Of 100 normal individuals tested, 4 were heterozygous for the Duarte variant, which indicates a Duarte allele frequency of 2%. Biochemical characteristics of the novel genetic alterations were determined: enzyme activity for exonic alterations and splicing for intron. Conclusion: The genetic constitution of the GALT gene is responsible for galactosemia in the Korean population. (C) 2010 Elsevier B.V. All rights reserved. | ko_KR |
dc.language.iso | en | ko_KR |
dc.publisher | ELSEVIER SCIENCE BV | ko_KR |
dc.subject | Galactose-1-phosphate uridyltransferase | ko_KR |
dc.subject | Galactosemia | ko_KR |
dc.subject | Mutation | ko_KR |
dc.title | Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency | ko_KR |
dc.type | Article | ko_KR |
dc.contributor.AlternativeAuthor | 송상훈 | - |
dc.contributor.AlternativeAuthor | 박경운 | - |
dc.contributor.AlternativeAuthor | 송영한 | - |
dc.contributor.AlternativeAuthor | 홍용희 | - |
dc.contributor.AlternativeAuthor | 김민창 | - |
dc.contributor.AlternativeAuthor | 김진규 | - |
dc.contributor.AlternativeAuthor | 이동환 | - |
dc.contributor.AlternativeAuthor | 창호은 | - |
dc.contributor.AlternativeAuthor | 고대현 | - |
dc.contributor.AlternativeAuthor | 송정한 | - |
dc.identifier.doi | 10.1016/j.cca.2010.06.008 | - |
dc.citation.journaltitle | CLINICA CHIMICA ACTA | - |
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dc.description.tc | 2 | - |
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