Article
Evaluating LRRK2 genetic variants with unclear pathogenicity.
BioMed research international - 1 Jan 2015
Refai Fathima Shaffra, Ng Shin Hui, Tan Eng-King
Abstract excerpt
Mutations in the leucine-rich repeat kinase 2 (LRRK2) have been known to be a major genetic component affecting Parkinson's disease (PD). However, the pathogenicity of many of the LRRK2 variants is unclear because they have been detected in single patients or also in patients and controls. Here, we selected 5 exonic variants (L1165P, T1410M, M1646T, L2063X, and Y2189C) from each of the protein domain of LRRK2 and...
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