Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling

BACKGROUND: The ATP-binding cassette, subfamily D, member 1 (ABCD1) protein is a peroxisomal half-transporter that allows for very long chain fatty acid (VLCFA) degradation. Pathogenic variants of ABCD1 cause VLCFAs to build up in various tissues and bodily fluids, resulting in a disorder called X-l...

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Detalles Bibliográficos
Autores principales: Richter Jr., John E., Vadlamudi, Charitha, Macklin, Sarah K., Samreen, Ayesha, Helmi, Haytham, Broderick, Daniel, Mohammad, Ahmed N., Hines, Stephanie L., VanGerpen, Jay A., Atwal, Paldeep S., Caulfield, Thomas R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7003284/
https://www.ncbi.nlm.nih.gov/pubmed/32047678
http://dx.doi.org/10.1155/2020/3256539

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7003284/
https://www.ncbi.nlm.nih.gov/pubmed/32047678
http://dx.doi.org/10.1155/2020/3256539

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