Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy

X-linked adrenoleukodystrophy (X-ALD) is a rare inborn error of the peroxisomal metabolism caused by pathologic variants in the ATP-binding cassette transporter type D, member 1 (ABCD1) gene located on the X-chromosome. ABCD1 protein, also known as adrenoleukodystrophy protein, is responsible for tr...

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Detalles Bibliográficos
Autores principales: Dohr, Katrin A., Tokic, Silvija, Gastager-Ehgartner, Magdalena, Stojakovic, Tatjana, Dumic, Miroslav, Plecko, Barbara, Dumic, Katja K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10051867/
https://www.ncbi.nlm.nih.gov/pubmed/36983033
http://dx.doi.org/10.3390/ijms24065957

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