Abstract
The identification of the enzyme defect in Refsum disease (RD) in 1997, soon followed by cloning of the phytanoyl-CoA hydroxylase (PhyH) cDNA and resolution of its genomic structure, allowed studies on the molecular basis of RD (Jansen et al 1997, 2000, Mihalik et al 1997). These studies revealed that most but not all patients with RD carry mutations in the PHYH gene suggesting genetic heterogeneity. Further proof came from gene mapping studies pointing to a second locus (Wierzbicki et al 2000). We have now studied these patients in detail using a combined approach involving enzymatic, cell-biological and genetic studies.
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Van Den Brink, D.M. et al. (2003). Identification of PEX7 as the Second Gene Involved in Refsum Disease. In: Roels, F., Baes, M., De Bie, S. (eds) Peroxisomal Disorders and Regulation of Genes. Advances in Experimental Medicine and Biology, vol 544. Springer, Boston, MA. https://doi.org/10.1007/978-1-4419-9072-3_9
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DOI: https://doi.org/10.1007/978-1-4419-9072-3_9
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