McCabe, Dominick J H <br/><br/>
Intrafamilial phenotypic variability in Friedreich ataxia associated with a G130V mutation in the FRDA gene.  [electronic resource] 

 -  Archives of neurology  Feb 2002 
 - 296-300 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0003-9942 
<br/><br/><label>Standard No.: </label>10.1001/archneur.59.2.296  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adaptor Proteins, Signal Transducing<br/>Adult<br/>Ataxia--etiology<br/>Chromosomes, Human, Pair 9--genetics<br/>Disease Progression<br/>Female<br/>Friedreich Ataxia--genetics<br/>Humans<br/>Male<br/>Nerve Tissue Proteins--analysis<br/>Pedigree<br/>Phenotype<br/>Point Mutation<br/>Polymerase Chain Reaction<br/>Trinucleotide Repeats--genetics