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Volumn 3, Issue 4, 1996, Pages 385-388

Clinical, biochemical and molecular genetic findings in a family with adrenomyeloneuropathy

Author keywords

Adrenoleukodystrophy; Adrenomyeloneuropathy; ALD gene; Molecular genetic analysis; Peroxisomal disorder; X linked genetic disease

Indexed keywords

ASPARTIC ACID; DNA; VALINE; VERY LONG CHAIN FATTY ACID;

EID: 0029745801     PISSN: 13515101     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1468-1331.1996.tb00234.x     Document Type: Article
Times cited : (1)

References (15)
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    • Cartier N, Sarde CO, Douar AM, Mosser J, Mandel JL and Aubourg P(1993) Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy. Human Molecular Genetics, 2, 1949-1951.
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    • Cartier, N.1    Sarde, C.O.2    Douar, A.M.3    Mosser, J.4    Mandel, J.L.5    Aubourg, P.6
  • 3
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    • The protein coded by X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein
    • Contreras M, Mosser J, Mandel JL, Aubourg P and Singh I (1994) The protein coded by X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein. FEBS Letters 344, 211-215.
    • (1994) FEBS Letters , vol.344 , pp. 211-215
    • Contreras, M.1    Mosser, J.2    Mandel, J.L.3    Aubourg, P.4    Singh, I.5
  • 6
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    • Adrenomyeloneuropathy: A probable variant of adrenoleukodystrophy. Clinical and endocrinological aspects
    • Griffin JW, Goren E and Schaumburg H. (1977) Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. Clinical and endocrinological aspects. Neurology, 27, 1107-1113.
    • (1977) Neurology , vol.27 , pp. 1107-1113
    • Griffin, J.W.1    Goren, E.2    Schaumburg, H.3
  • 8
    • 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, 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. Journal of Biological Chemistry, 265, 4534-4540.
    • (1990) Journal of Biological Chemistry , vol.265 , pp. 4534-4540
    • Kamijo, K.1    Taketani, S.2    Yokota, S.3    Osumi, T.4    Hashimoto, T.5
  • 10
    • 0001574585 scopus 로고
    • Adrenoleukodystrophy (X-linked)
    • (Eds CR Scriver, AL Beaudet and WS Sly), 6th edn, Chap. 58, McGraw-Hill, New York
    • Moser HW and Moser A (1989) Adrenoleukodystrophy (X-linked). In: The Metabolic Basis of Inherited Disease (Eds CR Scriver, AL Beaudet and WS Sly), 6th edn, Chap. 58, pp. 1511-1532. McGraw-Hill, New York.
    • (1989) The Metabolic Basis of Inherited Disease , pp. 1511-1532
    • Moser, H.W.1    Moser, A.2
  • 14
    • 0344803532 scopus 로고
    • Adrenoleukodystrophy: Impaired oxidation of very long chain fatty acids in cultured skin fibroblasts and adrenal cortex
    • Singh I, Moser HW and Moser A (1984) Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in cultured skin fibroblasts and adrenal cortex. Proceedings of the National Academy of Science USA, 81, 4203-4207.
    • (1984) Proceedings of the National Academy of Science USA , vol.81 , pp. 4203-4207
    • Singh, I.1    Moser, H.W.2    Moser, A.3
  • 15
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    • A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: A clinical, biochemical and genetic study
    • Vorgerd M, Fuchs S, Tegenthoff M and Malin J-P (1995) A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical and genetic study. Journal of Neurology, Neurosurgery and Psychiatry, 58, 229-231.
    • (1995) Journal of Neurology, Neurosurgery and Psychiatry , vol.58 , pp. 229-231
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.