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Pathophysiology of X-linked adrenoleukodystrophy()

Currently the molecular basis for the clinical heterogeneity of X-linked adrenoleukodystrophy (X-ALD) is poorly understood. The genetic bases for all different phenotypic variants of X-ALD are mutations in the gene encoding the peroxisomal ATP-binding cassette (ABC) transporter, ABCD1 (formerly adre...

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Bibliografiske detaljer
Main Authors: Berger, J., Forss-Petter, S., Eichler, F.S.
Format: Artigo
Sprog:Inglês
Udgivet: Editions Scientifiques Elsevier 2014
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3988840/
https://ncbi.nlm.nih.gov/pubmed/24316281
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.biochi.2013.11.023
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