메뉴 건너뛰기




Volumn 62, Issue 1, 1998, Pages 64-69

NAGLU mutations underlying Sanfilippo syndrome type B

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA N ACETYLGLUCOSAMINIDASE;

EID: 17344367091     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301685     Document Type: Article
Times cited : (52)

References (16)
  • 1
    • 0004485602 scopus 로고    scopus 로고
    • Mutation analysis in Sanfilippo syndrome type B by automated sequencing of the NAGLU coding region
    • Aronovich EL, Zhao HG, Neufeld EF, Whitley CB (1996) Mutation analysis in Sanfilippo syndrome type B by automated sequencing of the NAGLU coding region. Am J Hum Genet Suppl 59:A246
    • (1996) Am J Hum Genet Suppl , vol.59
    • Aronovich, E.L.1    Zhao, H.G.2    Neufeld, E.F.3    Whitley, C.B.4
  • 2
    • 0019631277 scopus 로고
    • 4-Methylumbelliferyl 2-acetamido-2-deoxy-α-D-glucopyranoside, a fluorogenic substrate for N-acetylglucosaminidase
    • Chow P, Weissmann B (1981) 4-Methylumbelliferyl 2-acetamido-2-deoxy-α-D-glucopyranoside, a fluorogenic substrate for N-acetylglucosaminidase. Carbohydr Res 96:87-93
    • (1981) Carbohydr Res , vol.96 , pp. 87-93
    • Chow, P.1    Weissmann, B.2
  • 3
    • 0027487001 scopus 로고
    • Management of mucopolysaccharidosis type III
    • Cleary MA, Wraith JE (1993) Management of mucopolysaccharidosis type III. Arch Dis Child 69:403-406
    • (1993) Arch Dis Child , vol.69 , pp. 403-406
    • Cleary, M.A.1    Wraith, J.E.2
  • 4
    • 0028985560 scopus 로고
    • 22 Genes from chromosome 17q21: Cloning, sequencing, and characterization of mutations in breast cancer families and tumors
    • Friedman LS, Ostermeyer EA, Lynch ED, Welcsh P, Szabo CJ, Meza JE, Naderson LA, et al (1995) 22 Genes from chromosome 17q21: cloning, sequencing, and characterization of mutations in breast cancer families and tumors. Genomics 25:256-263
    • (1995) Genomics , vol.25 , pp. 256-263
    • Friedman, L.S.1    Ostermeyer, E.A.2    Lynch, E.D.3    Welcsh, P.4    Szabo, C.J.5    Meza, J.E.6    Naderson, L.A.7
  • 5
    • 0028449393 scopus 로고
    • Over-expression of the human lysosomal enzyme α-L-iduronidase in Chinese hamster ovary cells
    • Kakkis ED, Matynia A, Jonas AJ, Neufeld EF (1994) Over-expression of the human lysosomal enzyme α-L-iduronidase in Chinese hamster ovary cells. Protein Expr Purif 5: 225-232
    • (1994) Protein Expr Purif , vol.5 , pp. 225-232
    • Kakkis, E.D.1    Matynia, A.2    Jonas, A.J.3    Neufeld, E.F.4
  • 6
    • 0025643362 scopus 로고
    • A general method for rapid site-directed mutagenesis using the polymerase chain reaction
    • Landt O, Grunert HP, Hahn U (1990) A general method for rapid site-directed mutagenesis using the polymerase chain reaction. Gene 96:125-128
    • (1990) Gene , vol.96 , pp. 125-128
    • Landt, O.1    Grunert, H.P.2    Hahn, U.3
  • 9
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita M, Suzuki Y, Sekiya T, Hayasho K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874-879
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayasho, K.4
  • 10
    • 0025869333 scopus 로고
    • A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene
    • Paw BH, Wood LC, Neufeld EF (1991) A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene. Am J Hum Genet 48: 1139-1146
    • (1991) Am J Hum Genet , vol.48 , pp. 1139-1146
    • Paw, B.H.1    Wood, L.C.2    Neufeld, E.F.3
  • 12
    • 0022396459 scopus 로고
    • Neuropathological study and chemico-pathological correlation in sibling cases of Sanfilippo syndrome type B
    • Tamagawa K, Morimatsu Y, Fujisawa K, Hara A, Taketomi T (1985) Neuropathological study and chemico-pathological correlation in sibling cases of Sanfilippo syndrome type B. Brain Dev 7:599-609
    • (1985) Brain Dev , vol.7 , pp. 599-609
    • Tamagawa, K.1    Morimatsu, Y.2    Fujisawa, K.3    Hara, A.4    Taketomi, T.5
  • 13
    • 0029994363 scopus 로고    scopus 로고
    • Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)
    • Weber B, Blanch L, Clements PR, Scott S, Hopwood JJ (1996) Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B). 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, S.4    Hopwood, J.J.5
  • 15
    • 0003467990 scopus 로고
    • The gene encoding α-N-acetylglucosaminidase and mutations underlying Sanfilippo B syndrome
    • Zhao HG, Li HH, Schmidtchen A, Bach G, Neufeld EF (1995) The gene encoding α-N-acetylglucosaminidase and mutations underlying Sanfilippo B syndrome. Am J Hum Genet Suppl 57:A185
    • (1995) Am J Hum Genet Suppl , vol.57
    • Zhao, H.G.1    Li, H.H.2    Schmidtchen, A.3    Bach, G.4    Neufeld, E.F.5
  • 16
    • 0030240685 scopus 로고    scopus 로고
    • Molecular dissection of a cosmid from a gene-rich region in 17q21 and characterization of a candidate gene for α-N-acetylglucosaminidase
    • Erratum [1997] Mamm Genome 8:161
    • Zhao Z, Yazdani A, Shen Y, Sun Z-S, Bailey J, Caskey CT, Lee C-C (1996b) Molecular dissection of a cosmid from a gene-rich region in 17q21 and characterization of a candidate gene for α-N-acetylglucosaminidase. Mamm Genome 7:686-690 (Erratum [1997] Mamm Genome 8:161)
    • (1996) Mamm Genome , vol.7 , pp. 686-690
    • Zhao, Z.1    Yazdani, A.2    Shen, Y.3    Sun, Z.-S.4    Bailey, J.5    Caskey, C.T.6    Lee, C.-C.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.