Restoration of phytanic acid oxidation in Refsum disease fibroblasts from patients with mutations in the phytanoyl-CoA hydroxylase gene.

doi:10.1016/s0014-5793(98)00575-4

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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 mutatio...

Topics

Chromosome Mapping
Chromosomes, Human, Pair 10
Fibroblasts
Humans
Mixed Function Oxygenases
Mutation
Oxidation-Reduction
Phytanic Acid
Refsum Disease
Transfection

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