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Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.
Hum Mutat. 2001;18(1):52-60. doi: 10.1002/humu.1149.
Hum Mutat. 2001.
PMID: 11438993
Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophy.
Unterrainer G, Molzer B, Forss-Petter S, Berger J.
Unterrainer G, et al.
Hum Mol Genet. 2000 Nov 1;9(18):2609-16. doi: 10.1093/hmg/9.18.2609.
Hum Mol Genet. 2000.
PMID: 11063720
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A de novo adrenoleukodystrophy gene (ABCD1) mutation S636I without detectable ABCD1 protein and a R104C mutation with normal amounts of protein from an Austrian patient collective.
Berger J, Korosec T, Unterrainer G, Molzer B.
Berger J, et al. Among authors: unterrainer g.
Hum Mutat. 2000 Dec;16(6):534. doi: 10.1002/1098-1004(200012)16:6<534::AID-HUMU25>3.0.CO;2-U.
Hum Mutat. 2000.
PMID: 11102997
No abstract available.
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Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy.
Netik A, Forss-Petter S, Holzinger A, Molzer B, Unterrainer G, Berger J.
Netik A, et al. Among authors: unterrainer g.
Hum Mol Genet. 1999 May;8(5):907-13. doi: 10.1093/hmg/8.5.907.
Hum Mol Genet. 1999.
PMID: 10196381
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