Article
Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society - 15 May 2007
Huang Yue, Halliday Glenda M, Vandebona Himesha, Mellick George D, Mastaglia Frank, Stevens Julia, Kwok John, Garlepp Michael, Silburn Peter A, Horne Malcolm K, Kotschet Katya, Venn Alison, Rowe Dominic B, Rubio Justin P, Sue Carolyn M
Abstract excerpt
We determined the prevalence of two common leucine-rich repeat kinase 2 (LRRK2) gene mutations in Australian patients with Parkinson's disease (PD). Of 830 affected patients, eight were heterozygous for the G2019S mutation, and two were heterozygous for the R1441H (4,322 G > A) mutation. In addition, one familial patient had a novel A1442P (4,324 G > C) mutation. Haplotype analysis showed that all LRRK2...
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