Browsing Wolfson Institute of Preventive Medicine by Subject "H50Q"
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Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.
(Elsevier, 2017-12-20)SNCA missense mutations are a rare cause of autosomal dominant Parkinson's disease (PD). To date, 6 missense mutations in SNCA have been nominated as causal. Here, we assess the frequency of these 6 mutations in public ...