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[1]
Moser H.W.(1997)Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy Brain 120 1485-1508
[2]
Moser H.W.(1984)Adrenoleukodystrophy: Survey of 303 cases: biochemistry, diagnosis and therapy Ann. Neurol. 16 628-641
[3]
Moser A.B.(1993)Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters Nature 361 726-730
[4]
O'Neill B.P.(1996)A Saccharomyces cerevisiae homolog of the human adrenoleukodystrophy transporter is a heterodimer of two half ATP-binding cassette transporters Proc. Natl. Acad. Sci. USA 93 11901-11906
[5]
Mosser J.(1996)The ABC transporter proteins Pat1 and Pat2 are required for import of long-chain fatty acids into peroxisomes of Saccharomyces cerevisiae EMBO J. 15 3813-3822
[6]
Douar A.-M.(1995)Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes Am. J. Hum. Genet. 56 854-861
[7]
Sarde C.-O.(1995)Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein Am. J. Hum. Genet. 56 44-50
[8]
Kioschis P.(1995)Mutational analysis of patients with X-linked adrenoleukodystrophy Hum Mutation 6 104-115
[9]
Feil R.(1996)Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy Am. J. Hum. Genet. 58 1135-1144
[10]
Moser H.(1994)Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in the Netherlands: A survey of 30 kindreds Neurology 44 2343-2346