Article
Second mutation in PARK2 is absent in patients with sporadic Parkinson's disease and heterozygous exonic deletions/duplications in parkin gene.
The International journal of neuroscience - 1 Sept 2017
Shulskaya Marina V, Shadrina Maria I, Fedotova Ekaterina Yu, Abramycheva Nataliya Yu, Limborska Svetlana A, Illarioshkin Sergey N, Slominsky Petr A
Abstract excerpt
AIM OF THE STUDY: Mutations in PARK2 are one of the causes of Parkinson's disease (PD). Deletions and duplications/triplications of one exon or exon groups account for a large proportion of mutations in the gene. At the present time, it is still not fully clear whether heterozygous mutations cause the development of PD. Our study aimed at conducting screening for mutations in PARK2 in patients with a sporadic...
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