PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism
✍ Scribed by Klein, Christine; Djarmati, Ana; Hedrich, Katja; Schäfer, Nora; Scaglione, Cesa; Marchese, Roberta; Kock, Norman; Schüle, Birgitt; Hiller, Anja; Lohnau, Thora
- Book ID
- 110026359
- Publisher
- Nature Publishing Group
- Year
- 2005
- Tongue
- English
- Weight
- 149 KB
- Volume
- 13
- Category
- Article
- ISSN
- 1018-4813
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## Abstract Autosomal recessive early‐onset Parkinsonism (AREP) has been associated with mutations in the __Parkin__, __PINK1__, __DJ‐1__, and __ATP13A2__ genes. We studied the prevalence of mutations in all four genes in 29 Chinese unrelated families with AREP using direct sequencing analysis and
## Abstract To clarify the genetic correlation between __parkin__ and __PINK1__, we screened for __PINK1__ mutations in 175 parkinsonism patients with __parkin__ mutations. We detected two sibling pairs and one sporadic patient carrying both __parkin__ and __PINK1__ mutations. The age at onset of P
## Mutations in the Parkin (PARK2) and the DJ1 (PARK7) gene cause early-onset Parkinson disease (EOPD). We tested 75 Serbian EOPD patients for mutations in both genes by conventional mutational screening (SSCP/dHPLC/sequencing) to detect small sequence alterations and by gene dosage studies (quanti