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Volumn 10, Issue 12, 1999, Pages 1137-1141

Identification of a bovine β-mannosidosis mutation and detection of two β-mannosidase pseudogenes

Author keywords

[No Author keywords available]

Indexed keywords

MANNOSIDASE;

EID: 0032699807     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003359901179     Document Type: Article
Times cited : (19)

References (21)
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    • Alkhayat AH, Kraemer SA, Leipprandt JR, Macek M, Kleijer WJ et al. (1998) Human β-mannosidase cDNA characterization and first identification of a mutation associated with human β-mannosidosis. Hum Mol Genet 7, 75-83
    • (1998) Hum Mol Genet , vol.7 , pp. 75-83
    • Alkhayat, A.H.1    Kraemer, S.A.2    Leipprandt, J.R.3    Macek, M.4    Kleijer, W.J.5
  • 7
    • 0027518279 scopus 로고
    • Current methods of mutation detection
    • Cotton RGH (1993) Current methods of mutation detection. Mutat Res 285, 125-144
    • (1993) Mutat Res , vol.285 , pp. 125-144
    • Cotton, R.G.H.1
  • 8
    • 0015808518 scopus 로고
    • Neurovisceral storage and dysmyelinogenesis in neonatal goats
    • Hartley WJ, Blakemore WF (1973) Neurovisceral storage and dysmyelinogenesis in neonatal goats. Acta Neuropathol 25, 325-333
    • (1973) Acta Neuropathol , vol.25 , pp. 325-333
    • Hartley, W.J.1    Blakemore, W.F.2
  • 10
    • 0029883357 scopus 로고    scopus 로고
    • Optimization of DNase I removal of contaminating DNA from RNA for use in quantitative RNA-PCR
    • Huang Z, Fasco MJ, Kaminsky LS (1996) Optimization of DNase I removal of contaminating DNA from RNA for use in quantitative RNA-PCR. Biotechniques 20, 1012-1020
    • (1996) Biotechniques , vol.20 , pp. 1012-1020
    • Huang, Z.1    Fasco, M.J.2    Kaminsky, L.S.3
  • 12
    • 0019827370 scopus 로고
    • Caprine β-mannosidosis: Inherited deficiency of β-mannosidase
    • Jones MZ, Dawson G (1981) Caprine β-mannosidosis: inherited deficiency of β-mannosidase. J Biol Chem 256, 5185-5188
    • (1981) J Biol Chem , vol.256 , pp. 5185-5188
    • Jones, M.Z.1    Dawson, G.2
  • 13
    • 0019827369 scopus 로고
    • Caprine oligosaccharide storage disease: Accumulation of β-mannosyl (1-4)β-N-acetylglucosaminyl (1-4)β-N-acetylglucosamine in brain
    • Jones MZ, Laine RA (1981) Caprine oligosaccharide storage disease: accumulation of β-mannosyl (1-4)β-N-acetylglucosaminyl (1-4)β-N-acetylglucosamine in brain. J Biol Chem 256, 5181-5184
    • (1981) J Biol Chem , vol.256 , pp. 5181-5184
    • Jones, M.Z.1    Laine, R.A.2
  • 15
    • 0025685661 scopus 로고
    • β-Mannosidase deficiency: Heterogeneous manifestation in the first female patient and her brother
    • Kleijer WJ, Hu P, Thoomes R, Boer M, Huijmans JGM et al. (1990) β-Mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother. J Inherited Metab Dis 13, 867-872
    • (1990) J Inherited Metab Dis , vol.13 , pp. 867-872
    • Kleijer, W.J.1    Hu, P.2    Thoomes, R.3    Boer, M.4    Huijmans, J.G.M.5
  • 16
    • 0028841760 scopus 로고
    • Prenatal testing for caprine N-acetylglucosamine 6-sulphatase deficiency and sex identification
    • Leipprandt JR, Friderici K, Sprecher DJ, Jones MZ (1995) Prenatal testing for caprine N-acetylglucosamine 6-sulphatase deficiency and sex identification. J Inherited Metab Dis 18, 647-648
    • (1995) J Inherited Metab Dis , vol.18 , pp. 647-648
    • Leipprandt, J.R.1    Friderici, K.2    Sprecher, D.J.3    Jones, M.Z.4
  • 17
    • 0028156828 scopus 로고
    • Human β-mannosidase deficiency associated with peripheral neuropathy
    • Levade T, Graber D, Flurin V, Delisle M-B, Pieraggi M-T et al. (1994) Human β-mannosidase deficiency associated with peripheral neuropathy. Ann Neurol 35, 116-119
    • (1994) Ann Neurol , vol.35 , pp. 116-119
    • Levade, T.1    Graber, D.2    Flurin, V.3    Delisle, M.-B.4    Pieraggi, M.-T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.