Mutational analysis of the α-l-iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations

Clinical GeneticsVolume 66, Issue 6 p. 575-576 Mutational analysis of the α-l-iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations IJ Lee, IJ LeeSearch for more papers by this authorSH Hwang, SH HwangSearch for more papers by this authorBH Jeon, BH JeonSearch for more papers by this authorSM Song, SM SongSearch for more papers by this authorJS Kim, JS KimSearch for more papers by this authorKH Paik, KH PaikSearch for more papers by this authorEK Kwon, EK KwonSearch for more papers by this authorD-K Jin, Corresponding Author D-K Jin Dong-Kyu Jin, MD, PhD Department of Pediatrics Samsung Medical Center Sungkyunkwan University School of Medicine 50 Ilwon-dong Dong, Gang-Nam Gu Seoul 135-710, Korea Tel.: +82 2 3410 3525 Fax: +82 2 3410 0043 e-mail: [email protected]Search for more papers by this author IJ Lee, IJ LeeSearch for more papers by this authorSH Hwang, SH HwangSearch for more papers by this authorBH Jeon, BH JeonSearch for more papers by this authorSM Song, SM SongSearch for more papers by this authorJS Kim, JS KimSearch for more papers by this authorKH Paik, KH PaikSearch for more papers by this authorEK Kwon, EK KwonSearch for more papers by this authorD-K Jin, Corresponding Author D-K Jin Dong-Kyu Jin, MD, PhD Department of Pediatrics Samsung Medical Center Sungkyunkwan University School of Medicine 50 Ilwon-dong Dong, Gang-Nam Gu Seoul 135-710, Korea Tel.: +82 2 3410 3525 Fax: +82 2 3410 0043 e-mail: [email protected]Search for more papers by this author First published: 01 November 2004 https://doi.org/10.1111/j.1399-0004.2004.00374.xCitations: 8Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. References 1 Fujibayashi S, Minami R, Ishikawa Y, Wagatsuma K, Nakao T, Tsugawa S. Properties of alpha-L-iduronidase in cultured skin fibroblasts from alpha-L-iduronidase- deficient patients. Hum Genet 1984: 65: 268– 272.DOI: 10.1007/BF00286515 2 Yamagishi A, Tomatsu S, Fukuda S et al. Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Schieie syndromes in Japanese populations. Hum Mutat 1996: 7: 23– 29.DOI: 10.1002/(SICI)1098-1004(1996)7:1<23::AID-HUMU3>3.3.CO;2-K 3 Lee-Chen GJ, Lin SP, Tang YF, Chin YW. Mucopolysaccharidosis type I: characterization of novel mutations affecting α-L-iduronidase activity. Clin Genet 1999: 56: 66– 70.DOI: 10.1034/j.1399-0004.1999.560109.x 4 Scott HS, Litjens T, Hopwood JJ, Morris CP. PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene. Hum Genet 1992c: 90: 327. 5 Scott HS, Nelson PV, Hopwood JJ, Morris CP. PCR of a KpnI RFLP in the alpha-L-iduronidase (IDUA) gene. Nucleic Acids Res 1991c: 19: 5796. 6 Teng YN, Wang TR, Hwu WL, Lin SP, Lee-Chen GJ. Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S. Clin Genet 2000: 57: 131– 136.DOI: 10.1034/j.1399-0004.2000.570207.x 7 Bunge S, Kleijer WJ, Steglich C, Beck M, Schwinger E, Gal A. Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. Hum Mutat 1995: 6 (1): 91– 94. 8 Lee-Chen GJ, Lin SP, Chen IS, Chang JH, Yang CW, Chin YW. Mucopolysaccharidosis type I: identification and characterization of mutations affecting alpha-L-iduronidase activity. J Formos Med Assoc 2002: 101: 425– 428. Citing Literature Volume66, Issue6December 2004Pages 575-576 ReferencesRelatedInformation