McNeil, D E <br/><br/>
Comorbid VHL and SCA2 mutations in a large kindred: confounding diagnosis of neurological dysfunction caused by CNS VHL vascular tumours versus SCA2 atrophic neurodegeneration.  [electronic resource] 

 -  Journal of medical genetics  Jul 2002 
 - E37 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmg.39.7.e37  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Alleles<br/>Ataxins<br/>Central Nervous System Neoplasms--blood supply<br/>Comorbidity<br/>Diagnosis, Differential<br/>Female<br/>Humans<br/>Ligases--genetics<br/>Male<br/>Middle Aged<br/>Mutation--genetics<br/>Nerve Tissue Proteins<br/>Olivopontocerebellar Atrophies--diagnosis<br/>Pedigree<br/>Proteins--genetics<br/>Spinocerebellar Degenerations--diagnosis<br/>Trinucleotide Repeat Expansion--genetics<br/>Tumor Suppressor Proteins<br/>Ubiquitin-Protein Ligases<br/>Vascular Neoplasms--diagnosis<br/>Von Hippel-Lindau Tumor Suppressor Protein<br/>von Hippel-Lindau Disease--diagnosis