X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

X-linked adrenoleukodystrophy (X-ALD) is an inherited metabolic disease associated with mutations in the ABCD1 gene that encodes an ATP-binding cassette transporter protein, ALDP. The disease is characterized by increased concentrations of very long-chain fatty acids (VLCFAs) in plasma and in adrena...

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Autori principali: Amorosi, Cyntia Anabel, Myskóva, Helena, Monti, Mariela Roxana, Argaraña, Carlos Enrique, Morita, Masashi, Kemp, Stephan, de Kremer, Raquel Dodelson, Dvoráková, Lenka, de Ramírez, Ana María Oller
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2012
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3534082/
https://ncbi.nlm.nih.gov/pubmed/23300730
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0052635
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