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Volumn 369, Issue 1, 2006, Pages 29-34

Detection of hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: Biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers

Author keywords

Hunter syndrome; IDS gene; Iduronate 2 sulfatase; Mucopolysaccharidosis type II

Indexed keywords

IDURONATE 2 SULFATASE;

EID: 33646867421     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2006.01.001     Document Type: Article
Times cited : (35)

References (18)
  • 1
  • 2
    • 33646882632 scopus 로고    scopus 로고
    • Mucopolysaccharidosis and mucolipidosis
    • Lee M.L. (Ed), Bureau of Health Promotion, Department of Health, Taiwan, R.O.C. Chapter 11
    • Lin S.P., and Su P.H. Mucopolysaccharidosis and mucolipidosis. In: Lee M.L. (Ed). Metabolic disorders: Taiwan experience. 1st edition (2004), Bureau of Health Promotion, Department of Health, Taiwan, R.O.C. 261-286 Chapter 11
    • (2004) Metabolic disorders: Taiwan experience. 1st edition , pp. 261-286
    • Lin, S.P.1    Su, P.H.2
  • 3
    • 0037390834 scopus 로고    scopus 로고
    • Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations
    • Kim C.H., Hwang H.Z., Song S.M., et al. Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations. Hum Mutat 21 6 (2003) 449-450
    • (2003) Hum Mutat , vol.21 , Issue.6 , pp. 449-450
    • Kim, C.H.1    Hwang, H.Z.2    Song, S.M.3
  • 4
    • 25444454360 scopus 로고    scopus 로고
    • Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II
    • Kato T., Kato Z., Kuratsubo I., et al. Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II. J Hum Genet 50 8 (2005) 395-402
    • (2005) J Hum Genet , vol.50 , Issue.8 , pp. 395-402
    • Kato, T.1    Kato, Z.2    Kuratsubo, I.3
  • 5
    • 0027254236 scopus 로고
    • Sequence of the human iduronate 2-sulfatase (IDS) gene
    • Wilson P.J., Meaney C.A., Hopwood J.J., and Morris C.P. Sequence of the human iduronate 2-sulfatase (IDS) gene. Genomics 17 (1993) 773-775
    • (1993) Genomics , vol.17 , pp. 773-775
    • Wilson, P.J.1    Meaney, C.A.2    Hopwood, J.J.3    Morris, C.P.4
  • 6
    • 0029165961 scopus 로고
    • 130 kb of DNA sequence reveals 2 new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus
    • Timms K.M., Lu F., Shen Y., et al. 130 kb of DNA sequence reveals 2 new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. Genome Res 5 (1995) 71-78
    • (1995) Genome Res , vol.5 , pp. 71-78
    • Timms, K.M.1    Lu, F.2    Shen, Y.3
  • 7
    • 0028842154 scopus 로고
    • Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28
    • Rathmann M., Bunge S., Steglich C., Schwinger E., and Gal A. Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28. Hum Genet 95 (1995) 34-38
    • (1995) Hum Genet , vol.95 , pp. 34-38
    • Rathmann, M.1    Bunge, S.2    Steglich, C.3    Schwinger, E.4    Gal, A.5
  • 8
    • 0029161632 scopus 로고
    • The presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome
    • Bondeson M.L., Malmgren H., Dahl N., Carlberg B.M., and Pettersson U. The presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome. Eur J Hum Genet 3 (1995) 219-227
    • (1995) Eur J Hum Genet , vol.3 , pp. 219-227
    • Bondeson, M.L.1    Malmgren, H.2    Dahl, N.3    Carlberg, B.M.4    Pettersson, U.5
  • 9
    • 0025029196 scopus 로고
    • Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA
    • Wilson P.J., Morris C.P., Anson D.S., et al. Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc Natl Acad Sci U S A 87 (1990) 8531-8535
    • (1990) Proc Natl Acad Sci U S A , vol.87 , pp. 8531-8535
    • Wilson, P.J.1    Morris, C.P.2    Anson, D.S.3
  • 10
    • 0037903275 scopus 로고    scopus 로고
    • Human Gene Mutation Database (HGMD): 2003 update
    • Stenson P.D., Ball E.V., Mort M., et al. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 21 (2003) 577-581
    • (2003) Hum Mutat , vol.21 , pp. 577-581
    • Stenson, P.D.1    Ball, E.V.2    Mort, M.3
  • 11
    • 0029834834 scopus 로고    scopus 로고
    • Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene
    • Rathmann M., Bunge S., Beck M., Kresse H., Tylki-Szymanska A., and Gal A. Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene. Am J Hum Genet 59 (1996) 1202-1209
    • (1996) Am J Hum Genet , vol.59 , pp. 1202-1209
    • Rathmann, M.1    Bunge, S.2    Beck, M.3    Kresse, H.4    Tylki-Szymanska, A.5    Gal, A.6
  • 12
    • 0031744663 scopus 로고    scopus 로고
    • Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients
    • Froissart R., Maire I., Millat G., et al. Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients. Clin Genet 53 (1998) 362-368
    • (1998) Clin Genet , vol.53 , pp. 362-368
    • Froissart, R.1    Maire, I.2    Millat, G.3
  • 14
    • 0035194407 scopus 로고    scopus 로고
    • A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)
    • Voznyi Y.V., Keulemans J.L.M., and van Diggelen O.P. A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease). J Inherit Metab Dis 24 (2001) 675-680
    • (2001) J Inherit Metab Dis , vol.24 , pp. 675-680
    • Voznyi, Y.V.1    Keulemans, J.L.M.2    van Diggelen, O.P.3
  • 15
    • 0041821844 scopus 로고    scopus 로고
    • Expression studies of 2 novel in CIS-mutations identified in an intermediate case of Hunter syndrome
    • Ricci V., Filocamo M., Regis S., et al. Expression studies of 2 novel in CIS-mutations identified in an intermediate case of Hunter syndrome. Am J Med Genet 120A (2003) 84-87
    • (2003) Am J Med Genet , vol.120 A , pp. 84-87
    • Ricci, V.1    Filocamo, M.2    Regis, S.3
  • 17
    • 0031044151 scopus 로고    scopus 로고
    • Molecular and phenotypic variation in patients with severe Hunter syndrome
    • Timms K.M., Bondeson M.L., Ansari-Lari M.A., et al. Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet 6 3 (1997) 479-486
    • (1997) Hum Mol Genet , vol.6 , Issue.3 , pp. 479-486
    • Timms, K.M.1    Bondeson, M.L.2    Ansari-Lari, M.A.3
  • 18
    • 0025098474 scopus 로고
    • Exon definition may facilitate splice site selection in RNAs with multiple exons
    • Robberson B.L., Cote G.J., and Berget S.M. Exon definition may facilitate splice site selection in RNAs with multiple exons. Mol Cell Biol 10 (1990) 84-94
    • (1990) Mol Cell Biol , vol.10 , pp. 84-94
    • Robberson, B.L.1    Cote, G.J.2    Berget, S.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.