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Title: Analysis of LRRK2 functional domains in nondominant Parkinson disease
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. 
Issue Date: 2005
Publisher: American Academy of Neurology
Citation: 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. (2005). Analysis of LRRK2 functional domains in nondominant Parkinson disease. Neurology 65 (8) : 1319-1321. ScholarBank@NUS Repository.
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. Copyright 2005 by AAN Enterprises, Inc.
Source Title: Neurology
ISSN: 00283878
DOI: 10.1212/01.wnl.0000180517.70572.37
Appears in Collections:Staff Publications

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