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Volumn 61, Issue 5, 2002, Pages 389-390

High prevalence of I179S mutation in patients with late-onset metachromatic leukodystrophy [3]

Author keywords

[No Author keywords available]

Indexed keywords

CEREBROSIDE SULFATASE; ISOLEUCINE;

EID: 0036590286     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.610514.x     Document Type: Letter
Times cited : (7)

References (12)
  • 1
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    • Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient
    • Fluharty AL, Fluharty CB, Bohne W, von Figura K, Gieselmann V. Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient. Am J Hum Genet 1991: 49: 1340-1350.
    • (1991) Am. J. Hum. Genet. , vol.49 , pp. 1340-1350
    • Fluharty, A.L.1    Fluharty, C.B.2    Bohne, W.3    von Figura, K.4    Gieselmann, V.5
  • 2
    • 0030907848 scopus 로고    scopus 로고
    • Occurrence, distribution, and phenotype relations of arylsulphatase A in patients with metachromatic leukodystrophy
    • Berger J, Löschl B, Bernheimer H et al. Occurrence, distribution, and phenotype relations of arylsulphatase A in patients with metachromatic leukodystrophy. Am J Med Genet 1997: 69: 335-340.
    • (1997) Am. J. Med. Genet. , vol.69 , pp. 335-340
    • Berger, J.1    Löschl, B.2    Bernheimer, H.3
  • 3
    • 0030460131 scopus 로고    scopus 로고
    • Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele
    • Tylki-Szymañska A, Berger J, Löschl B, Lugowska A, Molzer B. Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele. Clin Genet 1996: 50: 287-292.
    • (1996) Clin. Genet. , vol.50 , pp. 287-292
    • Tylki-Szymañska, A.1    Berger, J.2    Löschl, B.3    Lugowska, A.4    Molzer, B.5
  • 4
    • 0033031886 scopus 로고    scopus 로고
    • Mutations associated with very late-onset metachromatic leukodystrophy
    • Perusi C, Gomez-Lira M, Duyff RF et al. Mutations associated with very late-onset metachromatic leukodystrophy. Clin Genet 1999: 55: 130.
    • (1999) Clin. Genet. , vol.55 , pp. 130
    • Perusi, C.1    Gomez-Lira, M.2    Duyff, R.F.3
  • 5
    • 0031898880 scopus 로고    scopus 로고
    • Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation
    • Gomez-Lira M, Perusi C, Mottes M et al. Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation. Hum Genet 1998: 102: 459-463.
    • (1998) Hum. Genet. , vol.102 , pp. 459-463
    • Gomez-Lira, M.1    Perusi, C.2    Mottes, M.3
  • 6
    • 0033227181 scopus 로고    scopus 로고
    • Metachromatic leucodystrophy: A newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179S in an adult onset case
    • Halsall DJ, Halligan EP, Elsey TS, Cox TM. Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179S in an adult onset case. Hum Mutat 1999: 14: 447.
    • (1999) Hum. Mutat. , vol.14 , pp. 447
    • Halsall, D.J.1    Halligan, E.P.2    Elsey, T.S.3    Cox, T.M.4
  • 8
    • 0030801002 scopus 로고    scopus 로고
    • Gapped BLAST and PSI-BLAST: A new generation of protein database search programs
    • Altschul SF, Madden TL, Schaffer AA et al. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 1997: 25: 3389-3402.
    • (1997) Nucleic Acids Res. , vol.25 , pp. 3389-3402
    • Altschul, S.F.1    Madden, T.L.2    Schaffer, A.A.3
  • 9
    • 0027968068 scopus 로고
    • CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice
    • Thompson JD, Higgins DG, Gibson TJ. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 1994: 22: 4673-4680.
    • (1994) Nucleic Acids Res. , vol.22 , pp. 4673-4680
    • Thompson, J.D.1    Higgins, D.G.2    Gibson, T.J.3
  • 10
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    • Crystal structure of human arylsulfatase A: The aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis
    • Lukatela G, Krauss N, Theis K et al. Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis. Biochemistry 1998: 37: 3654-3664.
    • (1998) Biochemistry , vol.37 , pp. 3654-3664
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  • 11
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    • Coulter-Mackie M, Gagnier L, Beis MJ et al. Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene. J Med Genet 1997: 34: 493-498.
    • (1997) J. Med. Genet. , vol.34 , pp. 493-498
    • Coulter-Mackie, M.1    Gagnier, L.2    Beis, M.J.3
  • 12
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.