High frequency of Parkin exon rearrangements in Mexican-mestizo patients with early-onset Parkinson's disease
✍ Scribed by Jorge Luis Guerrero Camacho; Nancy Monroy Jaramillo; Petra Yescas Gómez; Mayela Rodríguez Violante; Catherine Boll Woehrlen; Ma. Elisa Alonso Vilatela; Marisol López López
- Book ID
- 112143424
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 565 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0885-3185
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## Abstract A multiethnic series of patients with early‐onset Parkinson's disease (EOP) was studied to assess the frequency and nature of __parkin__/PARK2 gene mutations and to investigate phenotype–genotype relationships. Forty‐six EOP probands with an onset age of <45 years, and 14 affected relat
## Abstract ## Background: Deletions and duplications of single exons or exon groups account for a large proportion of the __PARK2__ gene mutations described in juvenile autosomal recessive Parkinson's disease (PD). ## Methods: We analyzed rearrangements in exons 1 to 12 of the __PARK2__ gene in
## 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