Analysis of LRRK2 functional domains in nondominant Parkinson disease |
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| Authors: | 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 |
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| Affiliation: | Department of Population Genetics, Genome Institute of Singapore, Singapore. |
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| Abstract: | 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 phenotype, expanding the phenotypic spectrum of LRRK2 mutations. |
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