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A G1528C Hadha knock-in mouse model recapitulates aspects of human clinical phenotypes for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a fatty acid oxidation disorder (FAOD) caused by a pathogenic variant, c.1528 G > C, in HADHA encoding the alpha subunit of trifunctional protein (TFPα). Individuals with LCHADD develop chorioretinopathy and peripheral neuropathy n...

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Detalles Bibliográficos
Autores principales:	Gaston, Garen, Babcock, Shannon, Ryals, Renee, Elizondo, Gabriela, DeVine, Tiffany, Wafai, Dahlia, Packwood, William, Holden, Sarah, Raber, Jacob, Lindner, Jonathan R., Pennesi, Mark E., Harding, Cary O., Gillingham, Melanie B.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10465608/ https://www.ncbi.nlm.nih.gov/pubmed/37644104 http://dx.doi.org/10.1038/s42003-023-05268-1

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