Article
Analysis of LRRK2 functional domains in nondominant Parkinson disease.
Neurology - 25 Oct 2005
Skipper L, Shen H, Chua E, Bonnard C, Kolatkar P, Tan L C S, Jamora R D, Puvan K, Puong K Y, Zhao Y, Pavanni R, Wong M C, Yuen Y, Farrer M, Liu J J, Tan E K
Abstract excerpt
A comprehensive sequence analysis of 29 exons that code for the functional domains of LRRK2 in 160 nondominant Parkinson disease (PD) patients was performed. Novel variant screening in a further 470 sporadic PD patients and 630 controls revealed two novel variants (R1067Q and IVS33 + 6 T>A), which are likely to be pathogenic in five patients. One patient presented initially with a typical essential tremor...
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