Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy

The progressive neurometabolic disorder X-linked adrenoleukodystrophy (ALD) is caused by pathogenic variants in the ABCD1 gene, which encodes the peroxisomal ATP-binding transporter for very-long-chain fatty acids. The clinical spectrum of ALD includes adrenal insufficiency, myelopathy, and/or leuko...

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Detalles Bibliográficos
Autores principales: Mallack, Eric J., Gao, Kerry, Engelen, Marc, Kemp, Stephan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8773697/
https://www.ncbi.nlm.nih.gov/pubmed/35053399
http://dx.doi.org/10.3390/cells11020283

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8773697/
https://www.ncbi.nlm.nih.gov/pubmed/35053399
http://dx.doi.org/10.3390/cells11020283

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