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Volumn 4, Issue 6, 1995, Pages 1093-1094

Identification of a novel frameshift mutation in a Japanese adrenoleukodystrophy patient

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; MEMBRANE PROTEIN;

EID: 0028997625     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/4.6.1093     Document Type: Article
Times cited : (12)

References (12)
  • 2
    • 0025255475 scopus 로고
    • The 70-kDa peroxisomal membrane protein is a member of the Mdr (P- glycoprotein)-related ATP-binding protein superfamily
    • Kamijo, K., Taketani, S. H., Yokota, S., Osumi, T. and Hashimoto, T. (1990) The 70-kDa peroxisomal membrane protein is a member of the Mdr (P- glycoprotein)-related ATP-binding protein superfamily. J.Biot.Chem. 265: 4534-4540.
    • (1990) J.Biot.Chem. , vol.265 , pp. 4534-4540
    • Kamijo, K.1    Taketani, S.H.2    Yokota, S.3    Osumi, T.4    Hashimoto, T.5
  • 3
    • 0022551325 scopus 로고
    • Lignoceroyl-CoASH ligase: Enzyme defect in fatty acid beta-oxidation system in X-linked childhood adrenoleukodystrophy
    • Hashmi, M., Stanley, W. and Singh, I. (1986) Lignoceroyl-CoASH ligase: enzyme defect in fatty acid beta-oxidation system in X-linked childhood adrenoleukodystrophy. FEBS 196: 247-250.
    • (1986) FEBS , vol.196 , pp. 247-250
    • Hashmi, M.1    Stanley, W.2    Singh, I.3
  • 4
    • 0026770745 scopus 로고
    • Transport of fatty acids into human and rat peroxisomes
    • Singh, I., Lazo, O., Dhaunsi, G. S. and Contreras, M. (1992) Transport of fatty acids into human and rat peroxisomes. J.Biol.Chem. 267: 13306-13313.
    • (1992) J.Biol.Chem. , vol.267 , pp. 13306-13313
    • Singh, I.1    Lazo, O.2    Dhaunsi, G.S.3    Contreras, M.4
  • 6
    • 0027375464 scopus 로고
    • Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy
    • Cartier, N., Sarde, C. O., Douar, A. M., Mosser, J., Mandel, J. L. and Aubourg, P. (1993) Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy. Hum. Mol. Genet. 2: 1949-1951.
    • (1993) Hum. Mol. Genet , vol.2 , pp. 1949-1951
    • Cartier, N.1    Sarde, C.O.2    Douar, A.M.3    Mosser, J.4    Mandel, J.L.5    Aubourg, P.6
  • 8
    • 0027978453 scopus 로고
    • Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene
    • Fanen, P., Guidoux, S., Sarde, C. O., Mandel, J. L., Goossens, M. and Aubourg, P. (1994) Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. J.Clin.Invest. 94: 516-520.
    • (1994) J.Clin.Invest. , vol.94 , pp. 516-520
    • Fanen, P.1    Guidoux, S.2    Sarde, C.O.3    Mandel, J.L.4    Goossens, M.5    Aubourg, P.6
  • 9
    • 0027997360 scopus 로고
    • Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)
    • Fuchs, S., Sarde, C. O., Wedemann, H., Schwinger, E., Mandel, J. L., Gal, A. (1994) Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). Hum. Mol. Genet. 3: 1903-1905.
    • (1994) Hum. Mol. Genet , vol.3 , pp. 1903-1905
    • Fuchs, S.1    Sarde, C.O.2    Wedemann, H.3    Schwinger, E.4    Mandel, J.L.5    Gal, A.6
  • 12
    • 0342511553 scopus 로고
    • Demonstration of the production of frameshift and base-substitution mutations by quasipalindromic DNA sequences
    • de Boer, J. G., Ripley, L. S. (1984) Demonstration of the production of frameshift and base-substitution mutations by quasipalindromic DNA sequences. Proc.Natl.Acad.Sci.USA. 81: 5528-5531.
    • (1984) Proc.Natl.Acad.Sci.Usa. , vol.81 , pp. 5528-5531
    • De Boer, J.G.1    Ripley, L.S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.