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Volumn 6, Issue 5, 1997, Pages 787-791

Molecular defects in Sanfilippo syndrome type A

Author keywords

[No Author keywords available]

Indexed keywords

LYSOSOME ENZYME; OLIGONUCLEOTIDE;

EID: 0030908329     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.5.787     Document Type: Article
Times cited : (42)

References (14)
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    • Neufeld, E.F.1    Muenzer, J.2
  • 2
    • 0019406297 scopus 로고
    • Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (Types A, B and C)
    • van de Kamp, J.J.P., Niemeijer, M.F., von Figura, K. and Giesberts, M.A.H. (1981) Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (Types A, B and C). Clin. Genet., 20, 152-160.
    • (1981) Clin. Genet. , vol.20 , pp. 152-160
    • Van De Kamp, J.J.P.1    Niemeijer, M.F.2    Von Figura, K.3    Giesberts, M.A.H.4
  • 4
    • 0029994363 scopus 로고    scopus 로고
    • Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis IIIB)
    • Weber, B., Blanch, L., Clements, P.R., Scott, H.S. and Hopwood, J.J. (1996) Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis IIIB). Hum. Mol. Genet., 5, 771-777.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 771-777
    • Weber, B.1    Blanch, L.2    Clements, P.R.3    Scott, H.S.4    Hopwood, J.J.5
  • 6
    • 0026480405 scopus 로고
    • A cDNA clone for glucosamine-6-sulphatase reveals differences between aryl-and non-aryl sulphatases
    • Robertson, D.A., Freeman, C., Morris, C.P. and Hopwood, J.J. (1992) A cDNA clone for glucosamine-6-sulphatase reveals differences between aryl-and non-aryl sulphatases. Biohem. J., 288, 539-544.
    • (1992) Biohem. J. , vol.288 , pp. 539-544
    • Robertson, D.A.1    Freeman, C.2    Morris, C.P.3    Hopwood, J.J.4
  • 8
    • 0027018480 scopus 로고
    • α-L-Iduronidase mutations (Q70X and P533R) associated with a severe Hurler phenotype
    • Scott, H.S., Litjens, T., Nelson, P.V., Brooks, D.A., Hopwood, J.J. and Morris, C.P. (1992) α-L-Iduronidase mutations (Q70X and P533R) associated with a severe Hurler phenotype. Hum. Mutat., 1, 333-339.
    • (1992) Hum. Mutat. , vol.1 , pp. 333-339
    • Scott, H.S.1    Litjens, T.2    Nelson, P.V.3    Brooks, D.A.4    Hopwood, J.J.5    Morris, C.P.6
  • 9
    • 0023277545 scopus 로고
    • Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
    • Chomczynski, P. and Sacchi, N. (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem., 162, 156-159.
    • (1987) Anal. Biochem. , vol.162 , pp. 156-159
    • Chomczynski, P.1    Sacchi, N.2
  • 10
    • 0020030423 scopus 로고
    • Diagnosis of Sanfilippo A syndrome by estimation of sulphamidase activity using a radiolabelled tetrasaccharide substrate
    • Hopwood, J.J. and Elliott, H. (1982) Diagnosis of Sanfilippo A syndrome by estimation of sulphamidase activity using a radiolabelled tetrasaccharide substrate. Clin. Chim. Acta, 123, 241-250.
    • (1982) Clin. Chim. Acta , vol.123 , pp. 241-250
    • Hopwood, J.J.1    Elliott, H.2
  • 12
    • 0029130352 scopus 로고
    • A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency
    • Schmidt, B., Selmer, T., Ingendoh, A. and von Figura, K. (1995) A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency. Cell, 82, 271-278.
    • (1995) Cell , vol.82 , pp. 271-278
    • Schmidt, B.1    Selmer, T.2    Ingendoh, A.3    Von Figura, K.4
  • 13
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    • High-resolution electrophoresis of urinary glycosaminoglycans
    • Hopwood, J.J. and Harrison, J.R. (1982) High-resolution electrophoresis of urinary glycosaminoglycans. Anal. Biochem., 119, 120-127
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    • Hopwood, J.J.1    Harrison, J.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.