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Article

Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.

Journal of inherited metabolic disease - 1 Jun 1998

Jansen G A, Ferdinandusse S, Skjeldal O H, Stokke O, de Groot C J, Jakobs C, Wanders R J

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Share to Amino Acid Substitution
Share to Cells, Cultured
Share to DNA, Complementary
Share to Fibroblasts

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mixed Function Oxygenases

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Share to Sequence Analysis, DNA

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Identifiers

PMID: 9686377
DOI: 10.1023/a:1005388710197

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.PMID 9686377Read ↗

Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).Semantic proximity Read ↗

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.Semantic proximity Read ↗

Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease.Semantic proximity Read ↗

Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.Semantic proximity Read ↗

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.Semantic proximity Read ↗

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

A novel Refsum-like disorder that maps to chromosome 20.Semantic proximity Read ↗

Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease.Semantic proximity Read ↗

Identification of PEX7 as the second gene involved in Refsum disease.Semantic proximity Read ↗

Identification of novel pathogenic variants in the PHYH gene and extending the phenotypic range in Refsum disease.Semantic proximity Read ↗

Genetics: Founder mutations identified in an inherited form of the metabolic syndrome.Semantic proximity Read ↗

Fibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum diseaseSemantic proximity Read ↗

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