Finsterer, Josef <br/><br/>
Non-manifesting Refsum heterozygotes carrying the c.135-2A>G PAHX gene transition.  [electronic resource] 

 -  Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology  Jun 2008 
 - 173-5 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1590-1874 
<br/><br/><label>Standard No.: </label>10.1007/s10072-008-0931-4  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Amino Acid Substitution--genetics<br/>Base Sequence--genetics<br/>Biomarkers--analysis<br/>Blindness--genetics<br/>Chromosomes, Human, Pair 10--genetics<br/>DNA Mutational Analysis<br/>Female<br/>Genetic Markers--genetics<br/>Genetic Predisposition to Disease--genetics<br/>Genotype<br/>Heterozygote<br/>Humans<br/>Male<br/>Middle Aged<br/>Mixed Function Oxygenases--genetics<br/>Mutation--genetics<br/>Neural Conduction--genetics<br/>Phytanic Acid--blood<br/>Refsum Disease--enzymology<br/>Restless Legs Syndrome--genetics