Identification of PEX7 as the Second Gene Involved in Refsum Disease

Patients affected with Refsum disease (RD) have elevated levels of phytanic acid due to a deficiency of the peroxisomal enzyme phytanoyl-CoA hydroxylase (PhyH). In most patients with RD, disease-causing mutations in the PHYH gene have been identified, but, in a subset, no mutations could be found, i...

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Main Authors: van den Brink, Daan M., Brites, Pedro, Haasjes, Janet, Wierzbicki, Anthony S., Mitchell, John, Lambert-Hamill, Michelle, de Belleroche, Jacqueline, Jansen, Gerbert A., Waterham, Hans R., Wanders, Ronald J. A.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2003
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC379239/
https://ncbi.nlm.nih.gov/pubmed/12522768
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