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dc.contributor.author여성희-
dc.date.accessioned2016-08-28T12:08:49Z-
dc.date.available2016-08-28T12:08:49Z-
dc.date.issued2012-
dc.identifier.issn0009-9163-
dc.identifier.otherOAK-8373-
dc.identifier.urihttp://dspace.ewha.ac.kr/handle/2015.oak/222284-
dc.description.abstractMucopolysaccharidosis type II (MPS II) or Hunter syndrome is a rare lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS). As MPS II is X-linked, patients are usually males with heterogeneous mutations ranging from point mutations to gross deletions and recombination. In 2003, we reported a mutation analysis of 25 patients with MPS II. In this study, 31 mutations in another 49 Korean patients (45 families) with MPS II are reported: 12 missense, nine deletions, four splicing, two nonsense, two insertions, one deletion/insertion, and IDS-IDS2 recombination mutations. Among these mutations, 11 were novel ones (4 missense mutations: Ser61Pro, Pro97Arg, Pro228Ala, and Pro261Ala; 5 deletions: c.344delA, c.420delG, c.768delT, c.1112delC and c.1402delC; 1 deletion/insertion: c.1222delinsTA; and 1 insertion mutation: c.359-360insATCC). The IDS-IDS2 recombination mutations were most frequently observed; all patients with this mutation had the severe MPS II phenotype. However, most of the patients (5/7) with the G374G splicing mutation had an attenuated phenotype, except for two sibling cases with the severe phenotype. Except for a few recurrent mutations such as the G374G, R443X, L522P, and recombination mutations, each patient had a unique individual mutation. Therefore, careful interpretation of genotype-phenotype correlations is warranted. © 2011 John Wiley & Sons A/S.-
dc.languageEnglish-
dc.titleIdentification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II-
dc.typeArticle-
dc.relation.issue2-
dc.relation.volume81-
dc.relation.indexSCI-
dc.relation.indexSCIE-
dc.relation.indexSCOPUS-
dc.relation.startpage185-
dc.relation.lastpage190-
dc.relation.journaltitleClinical Genetics-
dc.identifier.doi10.1111/j.1399-0004.2011.01641.x-
dc.identifier.wosidWOS:000299072900014-
dc.identifier.scopusid2-s2.0-84855970343-
dc.author.googleSohn Y.B.-
dc.author.googleKi C.-S.-
dc.author.googleKim C.-H.-
dc.author.googleKo A.-R.-
dc.author.googleYook Y.-J.-
dc.author.googleLee S.-J.-
dc.author.googleKim S.J.-
dc.author.googlePark S.W.-
dc.author.googleYeau S.-
dc.author.googleKwon E.-K.-
dc.author.googleHan S.J.-
dc.author.googleChoi E.W.-
dc.author.googleLee S.-Y.-
dc.author.googleKim J.-W.-
dc.author.googleJin D.-K.-
dc.contributor.scopusid여성희(6602666497)-
dc.date.modifydate20180301081000-
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사범대학 > 과학교육과 > Journal papers
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