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Variable phenotypic expression in families with early-onset Parkinsonism due toPRKNmutations

✍ Scribed by Karkheiran, Siamak; Krebs, Catharine E.; Darvish, Hossein; Asadian, Mojgan; Shahidi, Gholam Ali; Paisán-Ruiz, Coro

Book ID
125347027
Publisher
Springer
Year
2014
Tongue
English
Weight
377 KB
Volume
261
Category
Article
ISSN
0340-5354

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✍ Ming-Jen Lee; Ignacio F. Mata; Chin-Hsien Lin; Kai-Yuan Tzen; Sarah J. Lincoln; 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 438 KB

## Abstract We screened for mutations in the __PARKIN__, __DJ‐1__, and __PINK1__ genes in a Taiwanese cohort (68 probands; 58 sporadic and 10 familial) with early‐onset parkinsonism (EOP, onset <50 years of age). We identified 9 patients harboring mutations in __PARKIN__ (three compound heterozygou