[Neuroacanthocytosis diagnosis with new generation whole exome sequencing].

@article{Hadzsiev2017NeuroacanthocytosisDW,
  title={[Neuroacanthocytosis diagnosis with new generation whole exome sequencing].},
  author={Kinga Hadzsiev and M{\'o}nika Szőts and Anett Fekete and L{\'a}szl{\'o} Balik{\'o} and Kim Boycott and Ferenc Nagy and B{\'e}la Melegh},
  journal={Orvosi hetilap},
  year={2017},
  volume={158 42},
  pages={1681-1684}
}
In a patient with marked symptoms of Huntington disease after the huntingtin testing, which gave normal result, a whole exome sequencing (WES) has been performed based on an international collaboration. A homozygous G>A nucleotid change in the exon 34 of the VPS13A gene has been detected with WES, a mutation resulting in a premature stop codon at the… CONTINUE READING