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Volumn 97, Issue 2, 1996, Pages 194-197

Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MESSENGER RNA;

EID: 0030060578     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02265264     Document Type: Article
Times cited : (58)

References (27)
  • 2
    • 0028566461 scopus 로고
    • X-linked adreno-leukodystrophy (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. Bemheimer H (1994) X-linked adreno-leukodystrophy (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    Bemheimer, H.4
  • 4
    • 0027375464 scopus 로고
    • Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy
    • Cartier N, Sarde CO, Douar AM, Mosser J, Mandel JL, 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
  • 6
    • 0026652051 scopus 로고
    • Sparse hair and multiple endocrine disorders in two women heterozygous for adrenoleukodystrophy
    • Dumic M, Gubarev N, Sikic N, Roscher A, Plavsic V, Filipovic-Grcic B (1992) Sparse hair and multiple endocrine disorders in two women heterozygous for adrenoleukodystrophy. Am J Med Genet 43:829-832
    • (1992) Am J Med Genet , vol.43 , pp. 829-832
    • Dumic, M.1    Gubarev, N.2    Sikic, N.3    Roscher, A.4    Plavsic, V.5    Filipovic-Grcic, B.6
  • 7
    • 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
  • 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
  • 10
    • 0027549966 scopus 로고
    • The 70 kDa peroxisomal membrane protein: An ATP-binding cassette transporter protein involved in peroxisome biogenesis
    • Gärtner J, Valle D (1993) The 70 kDa peroxisomal membrane protein: an ATP-binding cassette transporter protein involved in peroxisome biogenesis. Cell Biol 4:45-52
    • (1993) Cell Biol , vol.4 , pp. 45-52
    • Gärtner, J.1    Valle, D.2
  • 11
    • 0028033905 scopus 로고
    • Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in the Netherlands: A survey of 30 kindreds
    • Geel BM van, Assies J, Weverling GJ, Barth PG (1994) Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in the Netherlands: a survey of 30 kindreds. Neurology 44:2343-2346
    • (1994) Neurology , vol.44 , pp. 2343-2346
    • Van Geel, B.M.1    Assies, J.2    Weverling, G.J.3    Barth, P.G.4
  • 12
    • 0025255475 scopus 로고
    • The 70-kDa peroxisomal membrane protein is a member of the Mdr (P-alycoprotein)-related ATP-binding protein superfamily
    • Kamijo K, Taketani S, Yokota S, Osumi T, Hashimoto T (1990) The 70-kDa peroxisomal membrane protein is a member of the Mdr (P-alycoprotein)-related ATP-binding protein superfamily. J Biol Chem 265:4534-4540
    • (1990) J Biol Chem , vol.265 , pp. 4534-4540
    • Kamijo, K.1    Taketani, S.2    Yokota, S.3    Osumi, T.4    Hashimoto, T.5
  • 15
    • 0028952397 scopus 로고
    • Glyceroltrioleate/glyceroltrierucate therapy in 16 patients with X-chromosomal adrenoleukodystrophy/ adrenomyeloneuropathy: Effect on clinical, biochemical and neurophysiological parameters
    • Korenke GC, Hunneman DH, Kohler J, Stöckler S, Landmark K, Hanefeld F (1995) Glyceroltrioleate/glyceroltrierucate therapy in 16 patients with X-chromosomal adrenoleukodystrophy/ adrenomyeloneuropathy: effect on clinical, biochemical and neurophysiological parameters. Eur J Pediatr 154:64-70
    • (1995) Eur J Pediatr , vol.154 , pp. 64-70
    • Korenke, G.C.1    Hunneman, D.H.2    Kohler, J.3    Stöckler, S.4    Landmark, K.5    Hanefeld, F.6
  • 17
    • 0026441186 scopus 로고
    • Predictions of a 2-locus model for disease heterogeneity: Application to adrenoleukodystrophy
    • Maestri NE, Beaty TH (1992) Predictions of a 2-locus model for disease heterogeneity: application to adrenoleukodystrophy. Am J Med Genet 44:576-582
    • (1992) Am J Med Genet , vol.44 , pp. 576-582
    • Maestri, N.E.1    Beaty, T.H.2
  • 18
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 19
    • 0027200034 scopus 로고
    • Peroxisomal diseases
    • Harris H. Hirschhorn K (eds) Plenum, New York
    • Moser HW (1993) Peroxisomal diseases. In: Harris H. Hirschhorn K (eds) Advances in human genetics. Plenum, New York, pp 1-106
    • (1993) Advances in Human Genetics , pp. 1-106
    • Moser, H.W.1
  • 20
    • 0029082884 scopus 로고
    • nd Ann Symp. Edinburgh, 6-9 September 1994
    • nd Ann Symp. Edinburgh, 6-9 September 1994. J Inherit Metab Dis 18:435-447
    • (1995) J Inherit Metab Dis , vol.18 , pp. 435-447
    • Moser, H.W.1
  • 23
    • 0021274199 scopus 로고
    • Adrenoleukodystrophy: Clinical and biochemical manifestations in carriers
    • O'Neill B, Moser HW, Saxena KM, Marmion LC (1984) Adrenoleukodystrophy: clinical and biochemical manifestations in carriers. Neurology 34:798-801
    • (1984) Neurology , vol.34 , pp. 798-801
    • O'Neill, B.1    Moser, H.W.2    Saxena, K.M.3    Marmion, L.C.4
  • 25
    • 0028676123 scopus 로고
    • cDNA sequence of ALdgh, the mouse homolog of the X-linked adrenoleukodystrophy gene
    • Sarde CO, Thomas J, Sadoulet H, Gamier J-M (1994b) cDNA sequence of ALdgh, the mouse homolog of the X-linked adrenoleukodystrophy gene. Mamm Genome 5: 810-813
    • (1994) Mamm Genome , vol.5 , pp. 810-813
    • Sarde, C.O.1    Thomas, J.2    Sadoulet, H.3    Gamier, J.-M.4
  • 27
    • 0027465595 scopus 로고
    • Penetrating the peroxisome
    • Valle D. Gärtner J (1993) Penetrating the peroxisome. Nature 361:682-683
    • (1993) Nature , vol.361 , pp. 682-683
    • Valle, D.1    Gärtner, J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.