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Volumn 33, Issue 4, 1996, Pages 284-288

The molecular defect underlying canine fucosidosis

Author keywords

Canine fucosidosis; Lysosomal storage disease; Mutation detection; L fucosidase

Indexed keywords

ALPHA LEVO FUCOSIDASE;

EID: 0030012161     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.4.284     Document Type: Article
Times cited : (27)

References (14)
  • 3
    • 0021109793 scopus 로고
    • Neuronal storage disease in English springer spaniels
    • Littlewood JD, Herrtage ME, Palmer AC. Neuronal storage disease in English springer spaniels. Vet Record 1983;112: 86-7.
    • (1983) Vet Record , vol.112 , pp. 86-87
    • Littlewood, J.D.1    Herrtage, M.E.2    Palmer, A.C.3
  • 4
    • 0021240452 scopus 로고
    • The enzymic defect and storage products in canine fucosidosis
    • Abraham D, Blakemore WF, Dell A, et al. The enzymic defect and storage products in canine fucosidosis. Biochem J 1984;221:25-33.
    • (1984) Biochem J , vol.221 , pp. 25-33
    • Abraham, D.1    Blakemore, W.F.2    Dell, A.3
  • 5
    • 5244238611 scopus 로고
    • Canine fucosidosis
    • Herrtage ME. Canine fucosidosis. Vet Annual 1988;28:223-7.
    • (1988) Vet Annual , vol.28 , pp. 223-227
    • Herrtage, M.E.1
  • 6
    • 0026782197 scopus 로고
    • Age at marrow transplantation is critical for successful treatment of canine fucosidosis
    • Ferrara ML, Taylor RM, Stewart GJ. Age at marrow transplantation is critical for successful treatment of canine fucosidosis. Transplant Proc 1992;23:2282-3.
    • (1992) Transplant Proc , vol.23 , pp. 2282-2283
    • Ferrara, M.L.1    Taylor, R.M.2    Stewart, G.J.3
  • 7
    • 0023837160 scopus 로고
    • The clinical effects of lysosomal enzyme replacement by bone marrow transplantation after total lymphoid irradiation on neurologic disease in fucosidase deficient dogs
    • Taylor RM, Farrow BRH, Stewart GJ, Healy PJ, Tiver K. The clinical effects of lysosomal enzyme replacement by bone marrow transplantation after total lymphoid irradiation on neurologic disease in fucosidase deficient dogs. Transplant Proc 1988;20:89-93.
    • (1988) Transplant Proc , vol.20 , pp. 89-93
    • Taylor, R.M.1    Farrow, B.R.H.2    Stewart, G.J.3    Healy, P.J.4    Tiver, K.5
  • 8
    • 84985417806 scopus 로고
    • Fucosidosis in English springer spaniels: Results of a trial screening programme
    • Barker CG, Herrtage ME, Shanahan F, Winchester BG. Fucosidosis in English springer spaniels: results of a trial screening programme. J Small Anim Pract 1988;29:623-30.
    • (1988) J Small Anim Pract , vol.29 , pp. 623-630
    • Barker, C.G.1    Herrtage, M.E.2    Shanahan, F.3    Winchester, B.G.4
  • 10
    • 0026529803 scopus 로고
    • Structure and sequence of the human α-L-fucosidase gene and pseudogene
    • Kretz KA, Cripe D, Carson GS, Fukushima H, O'Brien JS. Structure and sequence of the human α-L-fucosidase gene and pseudogene. Genomics 1992;12:276-80.
    • (1992) Genomics , vol.12 , pp. 276-280
    • Kretz, K.A.1    Cripe, D.2    Carson, G.S.3    Fukushima, H.4    O'Brien, J.S.5
  • 11
    • 0023698792 scopus 로고
    • Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis
    • Willems PJ, Darby JK, DiCioccio R, et al. Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis. Am J Hum Genet 1988;43:756-63.
    • (1988) Am J Hum Genet , vol.43 , pp. 756-763
    • Willems, P.J.1    Darby, J.K.2    DiCioccio, R.3
  • 12
    • 0024839834 scopus 로고
    • Characterisation of the EcoRI mutation in fucosidosis patients: A stop codon in the open reading frame
    • Kretz KA, Darby JK, Willems PJ, O'Brien JS. Characterisation of the EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame. J Mol Neurosci 1989;1:177-80.
    • (1989) J Mol Neurosci , vol.1 , pp. 177-180
    • Kretz, K.A.1    Darby, J.K.2    Willems, P.J.3    O'Brien, J.S.4
  • 13
    • 0026026852 scopus 로고
    • Fucosidosis revisited: A study of 77 patients
    • Willems PJ, Gatti R, Darby JK, et al. Fucosidosis revisited: a study of 77 patients. Am J Med Genet 1991;38:111-31.
    • (1991) Am J Med Genet , vol.38 , pp. 111-131
    • Willems, P.J.1    Gatti, R.2    Darby, J.K.3
  • 14
    • 0027405392 scopus 로고
    • A 5′ splice site mutation in fucosidosis
    • Williamson M, Cragg H, Grant J, et al. A 5′ splice site mutation in fucosidosis. J Med Genet 1993;30:218-23.
    • (1993) J Med Genet , vol.30 , pp. 218-223
    • Williamson, M.1    Cragg, H.2    Grant, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.