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American Journal of Human Genetics
Volumn 59, Issue 6, 1996, Pages 1202-1209
Mucopolysaccharidosis type II (Hunter syndrome): Mutation 'hot spots' in the iduronate-2-sulfatase gene
Author keywords

[No Author keywords available]
Indexed keywords

AMINO ACID; DINUCLEOTIDE; DNA; IDURONATE 2 SULFATASE; LYSOSOME ENZYME; MESSENGER RNA; RNA;
EID: 0029834834     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (75)
References (5)
  • 1
    • 0029865410 scopus 로고    scopus 로고
    • Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: Family studies indicate a mutation type-dependent sex ratio of mutation frequencies
    • Becker J, Schwaab R, Möller-Taube A, Schwaab U, Schmidt W, Brackmann HH, Grimm T, et al (1996) Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. Am J Hum Genet 58:657-670
    • (1996) Am J Hum Genet , vol.58 , pp. 657-670
    • Becker, J.1    Schwaab, R.2    Möller-Taube, A.3    Schwaab, U.4    Schmidt, W.5    Brackmann, H.H.6    Grimm, T.7
  • 2
    • 0028926890 scopus 로고
    • Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome
    • Bondeson ML, Dahl N, Malmgren H, Kleijer WJ, Tönnesen T, Carlberg BM, Petterson U (1995) Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Hum Mol Genet 4:615-621
    • (1995) Hum Mol Genet , vol.4 , pp. 615-621
    • Bondeson, M.L.1    Dahl, N.2    Malmgren, H.3    Kleijer, W.J.4    Tönnesen, T.5    Carlberg, B.M.6    Petterson, U.7
  • 3
    • 77957092111 scopus 로고    scopus 로고
    • Simple and nonisotopic methods to detect unknown gene mutations in nucleic acids
    • Adolph KW (ed) Academic Press, San Diego
    • Bunge S, Fuchs S, Gal A (1996) Simple and nonisotopic methods to detect unknown gene mutations in nucleic acids. In: Adolph KW (ed) Methods in molecular genetics. Vol 8: Human molecular genetics. Academic Press, San Diego, pp 26-39
    • (1996) Methods in Molecular Genetics. Vol 8: Human Molecular Genetics , vol.8 , pp. 26-39
    • Bunge, S.1    Fuchs, S.2    Gal, A.3
  • 4
    • 0026907536 scopus 로고
    • Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome)
    • Bunge S, Steglich C, Beck M, Rosenkranz W, Schwinger E, Hopwood JJ, Gal A (1992) Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mol Genet 1:335-339
    • (1992) Hum Mol Genet , vol.1 , pp. 335-339
    • Bunge, S.1    Steglich, C.2    Beck, M.3    Rosenkranz, W.4    Schwinger, E.5    Hopwood, J.J.6    Gal, A.7
  • 5
    • 0027374141 scopus 로고
    • Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome)
    • Bunge S, Steglich C, Zuther C, Beck M, Morris CP, Schwinger E, Schinzel A, et al (1993) Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mol Genet 2:1871-1875
    • (1993) Hum Mol Genet , vol.2 , pp. 1871-1875
    • Bunge, S.1    Steglich, C.2    Zuther, C.3    Beck, M.4    Morris, C.P.5    Schwinger, E.6    Schinzel, A.7

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.