Article
Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.
American journal of human genetics - 1 Jan 1995
Ligtenberg M J, Kemp S, Sarde C O, van Geel B M, Kleijer W J, Barth P G, Mandel J L, van Oost B A, Bolhuis P A
Abstract excerpt
X-linked adrenoleukodystrophy (ALD) has been associated with mutations in a gene encoding an ATP-binding transporter, which is located in the peroxisomal membrane. Deficiency of the gene leads to impaired peroxisomal beta-oxidation. Systematic analysis of the open reading frame of the ALD gene, using reverse transcriptase-PCR, followed by direct sequencing, revealed mutations in all 28 unrelated kindreds...
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