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Volumn 55, Issue 6, 2010, Pages 394-396

Molecular bases of metachromatic leukodystrophy in Polish patients

Author keywords

ARSA; arylsulfatase A; lysosomal disease; lysosome; metachromatic leukodystrophy; mutation analysis

Indexed keywords

CEREBROSIDE SULFATASE; DNA;

EID: 77954163128     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.25     Document Type: Article
Times cited : (6)

References (13)
  • 2
    • 20944444372 scopus 로고    scopus 로고
    • Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland
    • Ugowska, A., Berger, J., Tylki-Szymań ska, A., Löschl, B., Molzer, B., Zobel, M. et al. Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland. Clin. Genet. 68, 48-54 (2005).
    • (2005) Clin. Genet. , vol.68 , pp. 48-54
    • Ugowska, A.1    Berger, J.2    Tylki-Szymańska, A.3    Löschl, B.4    Molzer, B.5    Zobel, M.6
  • 4
    • 0023183869 scopus 로고
    • A simple chromogenic assay for arylsulfatase
    • Lee-Vaupel, M. & Conzelmannm, E. A simple chromogenic assay for arylsulfatase. A. Clin. Chim. Acta. 164, 171-180 (1987).
    • (1987) A. Clin. Chim. Acta. , vol.164 , pp. 171-180
    • Lee-Vaupel, M.1    Conzelmannm, E.2
  • 5
    • 0032819354 scopus 로고    scopus 로고
    • Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: Haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients
    • Gort, L., Coll, M. J. & Chabas, A. Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients. Hum. Mutat. 14, 240-248 (1999).
    • (1999) Hum. Mutat. , vol.14 , pp. 240-248
    • Gort, L.1    Coll, M.J.2    Chabas, A.3
  • 6
    • 0029121740 scopus 로고
    • Identification of seven novel mutations associated with metachromatic leukodystrophy
    • Barth, M. L., Fensom, A. & Harris, A. Identification of seven novel mutations associated with metachromatic leukodystrophy. Hum. Mutat. 6, 170-176 (1995).
    • (1995) Hum. Mutat. , vol.6 , pp. 170-176
    • Barth, M.L.1    Fensom, A.2    Harris, A.3
  • 8
    • 0027729818 scopus 로고
    • Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients
    • Barth, M. L., Fensom, A. & Harris, A. Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients. Hum. Mol. Genet. 2, 2117-2121 (1993).
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 2117-2121
    • Barth, M.L.1    Fensom, A.2    Harris, A.3
  • 9
    • 0032239403 scopus 로고    scopus 로고
    • Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy
    • Coulter-Mackie, M. B. & Gagnier, L. Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy. Hum. Mutat. 11-12(Suppl 1), S254-S256 (1998).
    • (1998) Hum. Mutat. , vol.11-12 , Issue.SUPPL. 1
    • Coulter-Mackie, M.B.1    Gagnier, L.2
  • 10
    • 0142154016 scopus 로고    scopus 로고
    • Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy
    • Olkhovich, N. V., Takamura, N., Pichkur, N., Gorovenko, N. G., Aoyagi, K. & Yamashita, S. Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy. Mol. Genet. Metab. 80, 360-363 (2003).
    • (2003) Mol. Genet. Metab. , vol.80 , pp. 360-363
    • Olkhovich, N.V.1    Takamura, N.2    Pichkur, N.3    Gorovenko, N.G.4    Aoyagi, K.5    Yamashita, S.6
  • 11
    • 0032611771 scopus 로고    scopus 로고
    • Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC
    • Marcao, A., Amaral, O., Pinto, E., Tamagnini, G. & Sa Miranda, M. C. Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Hum. Mutat. 13, 337-338 (1999).
    • (1999) Hum. Mutat. , vol.13 , pp. 337-338
    • Marcao, A.1    Amaral, O.2    Pinto, E.3    Tamagnini, G.4    Sa Miranda, M.C.5
  • 12
    • 0030011885 scopus 로고    scopus 로고
    • Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy
    • Hess, B., Kafert, S., Heinish, U., Wenger, D. A., Zlotogora, J. & Gieselmann, V. Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy. Hum. Mutat. 7, 311-317 (1996).
    • (1996) Hum. Mutat. , vol.7 , pp. 311-317
    • Hess, B.1    Kafert, S.2    Heinish, U.3    Wenger, D.A.4    Zlotogora, J.5    Gieselmann, V.6
  • 13
    • 0026353838 scopus 로고
    • Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient
    • Fluharty, A. L., Fluharty, C. B., Bohne, W., von Figura, K. & Gieselmann, V. Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient. Am. J. Hum. Genet. 49, 1340-1350 (1991).
    • (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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.