Article
Identification of PEX7 as the second gene involved in Refsum disease.
American journal of human genetics - 1 Feb 2003
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
Abstract excerpt
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, indicating that the condition is genetically heterogeneous. Linkage analysis of a few patients diagnosed with RD, but...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.