Publications
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Shyu WC, Lin SZ, Chiang MF, Pang CY, Chen SY, Hsin YL, Thajeb P, Lee YJ, Li. Early-onset Parkinson's disease in a Chinese population: 99mTc-TRODAT-1 SPECT, Parkin gene analysis and clinical study. Parkinsonism Relat Disord 11: 173-80, 2005
(PubMed ID: 15823482)
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PARK2:
(ex1del (breakpoints not mapped))
(ex2del (breakpoints not mapped))
(ex2-3del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
(ex7del (breakpoints not mapped))
(ex8del (breakpoints not mapped))
(ex10-12del (breakpoints not mapped))
(Cys212Gly)
(Arg256Cys)
(Val258Met)
(Gln311His)
(Gly430Asp)
(Cys441Arg)
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ID: 258 |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic