| Literature DB >> 16247070 |
L Skipper1, H Shen, E Chua, C Bonnard, P Kolatkar, L C S Tan, R D Jamora, K Puvan, K Y Puong, Y Zhao, R Pavanni, M C Wong, Y Yuen, M Farrer, J J Liu, E K Tan.
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.Entities:
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Year: 2005 PMID： 16247070 DOI： 10.1212/01.wnl.0000180517.70572.37
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910