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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 | |
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Chan DK, Mok V, Ng PW, Yeung J, Kwok JB, Fang ZM, Clarke R, Wong L, Schofield PR, Hattori N. PARK2 mutations and clinical features in a Chinese population with early-onset Parkinson's disease. J Neural Transm 115: 715-9, 2008 (PubMed ID: 18188499) |
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PARK2:
(ex6del (breakpoints not mapped))
(ex7del (breakpoints not mapped))
(IVS4+10T>C)
(Cys441Arg)
(Asp460fs)
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ID: 271 | |
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Guo JF, Xiao B, Liao B, Zhang XW, Nie LL, Zhang YH, Shen L, Jiang H, Xia K, Pan Q, Yan XX, Tang BS. Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism. Mov Disord 23: 2074-9, 2008 (PubMed ID: 18785233) |
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PARK2:
(ex1del (breakpoints not mapped))
(ex2del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(Gln34fs)
(Cys253Phe)
(Cys323fs)
(Cys441Arg)
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ID: 273 | |
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Lohmann E, Thobois S, Lesage S, Broussolle E, du Montcel ST, Ribeiro MJ, Remy P, Pelissolo A, Dubois B, Mallet L, Pollak P, Agid Y, Brice A; French Parkinson's Disease Genetics Study Group.. A multidisciplinary study of patients with early-onset PD with and without parkin mutations. Neurology 72: 110-6, 2009 (PubMed ID: 18987353) |
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PARK2:
(prom+ex1del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3dup (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex3-6del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
(ex6dup (breakpoints not mapped))
(ex8-9del (breakpoints not mapped))
(Gln34fs)
(Asn52fs)
(Arg275Trp)
(Cys441Arg)
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ID: 411 | |
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Lee MJ, Mata IF, Lin CH, Tzen KY, Lincoln SJ, Bounds R, Lockhart PJ, Hulihan MM, Farrer MJ, Wu RM. Genotype-phenotype correlates in Taiwanese patients with early-onset recessive Parkinsonism. Mov Disord 24: 104-8, 2009 (PubMed ID: 19006224) |
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PARK2:
(ex4del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
(ex6dup (breakpoints not mapped))
(Tyr267His)
(Cys441Arg)
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ID: 284 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
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