Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa

Journal of the Neurological Sciences

Volumn 266, Issue 1-2, 2008, Pages 182-186

  Finsterer, Josef ^a   Regelsberger, Günther ^b   Voigtländer, Till ^b  

^a KRANKENANSTALT RUDOLFSTIFTUNG   (Austria)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

Alpha oxidation; Deafness; Fatty acids; Lipid metabolism; Multi system disease; Peroxisomes; Phytanic acid; Polyneuropathy; Retinitis pigmentosa

Indexed keywords

PHYTANIC ACID;

ADULT; ARTICLE; CASE REPORT; DNA POLYMORPHISM; EXON; FEMALE; GENE; GENE MUTATION; HUMAN; HYPOACUSIS; PHYH GENE; POLYNEUROPATHY; PRIORITY JOURNAL; REFSUM DISEASE; RETINITIS PIGMENTOSA; SENSORIMOTOR NEUROPATHY; VISUAL IMPAIRMENT;

DIET; DNA; EXONS; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; MIDDLE AGED; MIXED FUNCTION OXYGENASES; MUTATION; NEUROLOGIC EXAMINATION; PHYTANIC ACID; REFSUM DISEASE; RETINITIS PIGMENTOSA; RNA SPLICE SITES; TRIGLYCERIDES;

EID: 38749097748     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2007.09.005     Document Type: Article

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