Non-manifesting Refsum heterozygotes carrying the c.135-2A>G PAHX gene transition. [electronic resource]
Producer: 20081020Description: 173-5 p. digitalISSN:- 1590-1874
- Adult
- Amino Acid Substitution -- genetics
- Base Sequence -- genetics
- Biomarkers -- analysis
- Blindness -- genetics
- Chromosomes, Human, Pair 10 -- genetics
- DNA Mutational Analysis
- Female
- Genetic Markers -- genetics
- Genetic Predisposition to Disease -- genetics
- Genotype
- Heterozygote
- Humans
- Male
- Middle Aged
- Mixed Function Oxygenases -- genetics
- Mutation -- genetics
- Neural Conduction -- genetics
- Phytanic Acid -- blood
- Refsum Disease -- enzymology
- Restless Legs Syndrome -- genetics
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Publication Type: Case Reports; Journal Article
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