Article
Restoration of phytanic acid oxidation in Refsum disease fibroblasts from patients with mutations in the phytanoyl-CoA hydroxylase gene.
FEBS letters - 5 Jun 1998
Chahal A, Khan M, Pai S G, Barbosa E, Singh I
Abstract excerpt
Refsum disease (RD) is biochemically characterized by the excessive accumulation of phytanic acid in tissues and body fluids due to deficiency of phytanoyl-CoA hydroxylase (PAHX). In this study, we screened three RD patients and identified a novel deletion (88 amino acids), and a missense mutation (Arg275Trp) in the previously reported PAHX cDNA (Jansen et al., 1997; Mihalik et al., 1997). Moreover, transfection...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.