The Asp620asn mutation in VPS35 is not a common cause of familial Parkinson's disease
✍ Scribed by Ilaria Guella; Giulia Soldà; Roberto Cilia; Gianni Pezzoli; Rosanna Asselta; Stefano Duga; Stefano Goldwurm
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 79 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0885-3185
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## Abstract __LRRK2__ mutations have recently been described in families with Parkinson's disease. Here we show that one of them (G2019S) is present in 6% (7 of 124) unrelated cases of disease in a clinic‐based sample series from central Portugal, but not present in 126 controls from the same popul
## Abstract Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome predisposing to colorectal cancer and affects 1 in 5–10,000 births. Inheritance of a mutant allele of the adenomatous polyposis coli (__APC__) gene is the cause of ∼80% of FAP and 20–30% of an attenuated form of FAP