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Linkage of adrenoleukodystrophy to a polymorphic DNA probe
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0027941551
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Identification of a new frameshift mutation (180IdelAG) in the ALD gene
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Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes
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Braun A, Ambach H, Kammerer S, Rolinski B, Stöckler S, Rabl W, Gärtner J, Zierz S, Roscher AA (1995) Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes. Am J Hum Genet 56:854-861.
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Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy
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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.
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5
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Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene
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Fanen P, Guidoux S, Sarde CO, Mandel JL, Goossens M, Aubourg P (1994) Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. J Clin Invest 94:516-520.
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Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)
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Fuchs S, Sarde CO, Wedemann H, Schwinger E, Mandel JL, Gal A (1994) Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). Hum Mol Genet 3:1903-1905.
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Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrom
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Gärtner J, Moser H, Valle D (1992) Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrom. Nature Genet 1:16-23.
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8
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Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: A possible hot spot for mutation
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Kemp S, Ligtenberg MJL, van Geel BM, Earth PG, Wolterman RA, Schoute F, Sarde CO, Mandel JL, van Oost BA, Bolhuis PA (1994) Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: A possible hot spot for mutation. Biochem Biophys Res Commun 647-653.
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Adrenoleukodystrophy (X-linked)
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Adrenoleukodystrophy: Increased plasma content of saturated very long chain fatty acids
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Moser HW, Moser AB, Frayer KK, Chen W, Schulman JD, O'Neill BP, Kishimoto Y (1981) Adrenoleukodystrophy: Increased plasma content of saturated very long chain fatty acids. Neurology 31:1241-1249.
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Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy
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Moser HW, Moser AB, Naidu S, Bergin A (1991) Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy. Dev Neurosci 13:254-261.
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Putative X-linked adrenoleukodystropy gene shares unexpected homology with ABC transporters
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Mosser J, Douar AM, Sarde CO, Kioschis P, Feil R, Moser H, Poustka AM, Mandel JL, Aubourg P (1993) Putative X-linked adrenoleukodystropy gene shares unexpected homology with ABC transporters. Nature 361:726-730.
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Genomic organisation of the adrenoleukodystrophy gene
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Sarde CO, Mosser J, Kioschis P, Kretz C, Vicaire S, Aubourg P, Poustka A, Mandel JL (1994) Genomic organisation of the adrenoleukodystrophy gene. Genomics 22:13-20.
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Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy
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Uchiyama A, Suzuki Y, Song XQ, Fukao T, Imamura A, Tomatsu S, Shimozawa N, Kondo N, Orii T (1994) Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy. Biochem Biophys Res Commun 198: 632-636.
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