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Volumn 9, Issue 6, 1997, Pages 500-511

Mutations in the adrenoleukodystrophy gene

Author keywords

Adrenoleukodystrophy; DNA based diagnosis; Missense mutations

Indexed keywords

ADRENOLEUKODYSTROPHY; ARTICLE; DEMYELINATING DISEASE; GENE MUTATION; GENOTYPE; HUMAN; MISSENSE MUTATION; MOLECULAR CLONING; PHENOTYPE; PRIORITY JOURNAL;

EID: 0030976797     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:6<500::AID-HUMU2>3.0.CO;2-5     Document Type: Article
Times cited : (40)

References (13)
  • 3
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    • Restriction sites containing CpG show a higher frequency of polymorphism in human DNA
    • Barker D, Schafer M, White R (1984) Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell 36:131-138.
    • (1984) Cell , vol.36 , pp. 131-138
    • Barker, D.1    Schafer, M.2    White, R.3
  • 4
    • 0028566461 scopus 로고
    • X-linked adrenoleukodystrophy (ALD): A novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes
    • Berger J, Molzer B, Fae I, Bernheimer H (1994) X-linked adrenoleukodystrophy (ALD): A novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes. Biochem Biophys Res Commun 205:1638-1643.
    • (1994) Biochem Biophys Res Commun , vol.205 , pp. 1638-1643
    • Berger, J.1    Molzer, B.2    Fae, I.3    Bernheimer, H.4
  • 7
    • 0029932602 scopus 로고    scopus 로고
    • Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and applications to mutation detection
    • Braun A, Kammerer S, Ambach H, Roscher A (1996) Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and applications to mutation detection. Hum Mutat 7:105-108.
    • (1996) Hum Mutat , vol.7 , pp. 105-108
    • Braun, A.1    Kammerer, S.2    Ambach, H.3    Roscher, A.4
  • 8
    • 0027375464 scopus 로고
    • Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy
    • Cartier N, Sarde C-O, Douar A, Mosser J, Mandel J-L, 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.3    Mosser, J.4    Mandel, J.-L.5    Aubourg, P.6
  • 9
    • 0028175513 scopus 로고
    • The protein coded by the X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein
    • Contreras M, Mosser J, Mandel J-L, Aubourg P, Singh I (1994) The protein coded by the X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein. FEBS Lett 344:211-215.
    • (1994) FEBS Lett , vol.344 , pp. 211-215
    • Contreras, M.1    Mosser, J.2    Mandel, J.-L.3    Aubourg, P.4    Singh, I.5
  • 10
    • 0023853921 scopus 로고
    • The CpG dinucleotide and human genetic disease
    • Cooper D, Youssoufian H (1988) The CpG dinucleotide and human genetic disease. Hum Genet 78:151-155.
    • (1988) Hum Genet , vol.78 , pp. 151-155
    • Cooper, D.1    Youssoufian, H.2
  • 11
    • 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, 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
  • 12
  • 13
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.