Tripolszki, Kornélia <br/><br/>
High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.  [electronic resource] 

 -  Brain and behavior  04 2017 
 - e00669 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>2162-3279 
<br/><br/><label>Standard No.: </label>10.1002/brb3.669  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Aged<br/>Amyotrophic Lateral Sclerosis--genetics<br/>C9orf72 Protein<br/>DNA Helicases<br/>Female<br/>Heterozygote<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Multifunctional Enzymes<br/>Mutation, Missense<br/>Phenotype<br/>Proteins--genetics<br/>RNA Helicases--genetics<br/>RNA-Binding Protein FUS--genetics