Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.

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, usin...

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Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: 1995
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801307/
https://ncbi.nlm.nih.gov/pubmed/7825602
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