The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis

X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene encoding a peroxisomal ABC transporter. In this review, we compare estimates of incidence derived from different populations in order to provide an overview of the worldwide incidence of X-ALD. X-ALD presents with heterog...

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Detalles Bibliográficos
Autores principales: Wiesinger, Christoph, Eichler, Florian S, Berger, Johannes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2015
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4427263/
https://www.ncbi.nlm.nih.gov/pubmed/25999754
http://dx.doi.org/10.2147/TACG.S49590

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4427263/
https://www.ncbi.nlm.nih.gov/pubmed/25999754
http://dx.doi.org/10.2147/TACG.S49590

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