Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.

X-linked adrenoleukodystrophy (ALD), a neurodegenerative disorder associated with impaired beta-oxidation of very-long-chain fatty acids (VLCFA), is due to mutations in a gene encoding a peroxisomal ATP-binding cassette (ABC) transporter (ALD protein [ALDP]). We analyzed the open reading frame of th...

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Autors principals: Feigenbaum, V., Lombard-Platet, G., Guidoux, S., Sarde, C. O., Mandel, J. L., Aubourg, P.
Format: Artigo
Idioma:Inglês
Publicat: 1996
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1915047/
https://ncbi.nlm.nih.gov/pubmed/8651290
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