TY  - GEN
AU  - Finsterer,Josef
AU  - Regelsberger,Günther
AU  - Voigtländer,Till
TI  - Non-manifesting Refsum heterozygotes carrying the c.135-2A>G PAHX gene transition
SN  - 1590-1874
PY  - 2008///1020
KW  - Adult
KW  - Amino Acid Substitution
KW  - genetics
KW  - Base Sequence
KW  - Biomarkers
KW  - analysis
KW  - Blindness
KW  - Chromosomes, Human, Pair 10
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genetic Markers
KW  - Genetic Predisposition to Disease
KW  - Genotype
KW  - Heterozygote
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mixed Function Oxygenases
KW  - Mutation
KW  - Neural Conduction
KW  - Phytanic Acid
KW  - blood
KW  - Refsum Disease
KW  - enzymology
KW  - Restless Legs Syndrome
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1007/s10072-008-0931-4
ER  -