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Volumn 98, Issue 1, 1996, Pages 1-2

Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE;

EID: 0030013257     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050149     Document Type: Article
Times cited : (20)

References (11)
  • 1
    • 8944251209 scopus 로고
    • CBS (1993a) Mndstat Bevolk 41: 57
    • (1993) Mndstat Bevolk , vol.41 , pp. 57
  • 2
    • 8944257678 scopus 로고
    • CBS (1993b) Mndstat Bevolk 41: 58
    • (1993) Mndstat Bevolk , vol.41 , pp. 58
  • 3
    • 0021903443 scopus 로고
    • The acyl-CoA dehydrogenation deficiencies
    • Gregersen N (1985) The acyl-CoA dehydrogenation deficiencies. Scand J Clin Lab Invest 45 [Suppl 174]:1-60
    • (1985) Scand J Clin Lab Invest , vol.45 , Issue.174 SUPPL. , pp. 1-60
    • Gregersen, N.1
  • 4
    • 0025808797 scopus 로고
    • Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Identification of a Lys329 to Glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli
    • Gregersen N, Andresen BS, Bross P, Winter V, Rudiger N, Engst S, Christensen E, Kelly D, Strauss AW, Kolvraa S, Bolund L, Ghisla S (1991) Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a Lys329 to Glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli. Hum Genet 86: 545-551
    • (1991) Hum Genet , vol.86 , pp. 545-551
    • Gregersen, N.1    Andresen, B.S.2    Bross, P.3    Winter, V.4    Rudiger, N.5    Engst, S.6    Christensen, E.7    Kelly, D.8    Strauss, A.W.9    Kolvraa, S.10    Bolund, L.11    Ghisla, S.12
  • 7
    • 0022974709 scopus 로고
    • Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1
    • Matsubara Y, Kraus JP, Yang-Feng TL, Francke U, Rosenberg LE, Tanaka K (1986) Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1. Proc Natl Acad Sci USA 83: 6543-6547
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 6543-6547
    • Matsubara, Y.1    Kraus, J.P.2    Yang-Feng, T.L.3    Francke, U.4    Rosenberg, L.E.5    Tanaka, K.6
  • 8
    • 0028107294 scopus 로고
    • Population screening for carrier status: Effects of test limitations on precision of carrier prevalence rates
    • Parker RA, Phillips III JA (1994) Population screening for carrier status: effects of test limitations on precision of carrier prevalence rates. Am J Med Genet 49:317-322
    • (1994) Am J Med Genet , vol.49 , pp. 317-322
    • Parker, R.A.1    Phillips III, J.A.2
  • 9
    • 0000576457 scopus 로고
    • Mitochondrial fatty acid oxidation disorders
    • Scriver CR, Beaudet AL, Sly WS, et al (eds) McGraw-Hill, New York
    • Roe CR, Coates PM (1995) Mitochondrial fatty acid oxidation disorders.In: Scriver CR, Beaudet AL, Sly WS, et al (eds) The metabolic and molecular basis of inherited disease. McGraw-Hill, New York, pp 1501-1533
    • (1995) The Metabolic and Molecular Basis of Inherited Disease , pp. 1501-1533
    • Roe, C.R.1    Coates, P.M.2
  • 11
    • 0026719448 scopus 로고
    • 985A-to-G transition, and identification of five rare types of mutation within the medium-chain acyl-CoA dehydrogenase gene
    • Coates PM, Tanaka K (eds) Wiley-Liss, New York
    • 985A-to-G transition, and identification of five rare types of mutation within the medium-chain acyl-CoA dehydrogenase gene. In: Coates PM, Tanaka K (eds) New developments in fatty acid oxidation. Wiley-Liss, New York, pp 425-440
    • (1992) New Developments in Fatty Acid Oxidation , pp. 425-440
    • Yokota, I.1    Coates, P.M.2    Hale, D.E.3    Rinaldo, P.4    Tanaka, K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.