Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy

X-linked adrenoleukodystrophy (ALD) is a peroxisomal metabolic disorder with a highly complex clinical presentation. ALD is caused by mutations in the ABCD1 gene, and is characterized by the accumulation of very long-chain fatty acids in plasma and tissues. Disease-causing mutations are ‘loss of fun...

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Detalles Bibliográficos
Autores principales: Richmond, Phillip A., van der Kloet, Frans, Vaz, Frederic M., Lin, David, Uzozie, Anuli, Graham, Emma, Kobor, Michael, Mostafavi, Sara, Moerland, Perry D., Lange, Philipp F., van Kampen, Antoine H. C., Wasserman, Wyeth W., Engelen, Marc, Kemp, Stephan, van Karnebeek, Clara D. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7330173/
https://www.ncbi.nlm.nih.gov/pubmed/32671069
http://dx.doi.org/10.3389/fcell.2020.00520

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7330173/
https://www.ncbi.nlm.nih.gov/pubmed/32671069
http://dx.doi.org/10.3389/fcell.2020.00520

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