Analysis of LRRK2 functional domains in nondominant Parkinson disease
L Skipper, H Shen, E Chua, C Bonnard, P Kolatkar… - Neurology, 2005 - AAN Enterprises
Neurology, 2005•AAN Enterprises
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.
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.
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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