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Publications
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Kumazawa R, Tomiyama H, Li Y, Imamichi Y, Funayama M, Yoshino H, Yokochi F, Fukusako T, Takehisa Y, Kashihara K, Kondo T, Elibol B, Bostantjopoulou S, Toda T, Takahashi H, Yoshii F, Mizuno Y, Hattori N. Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease. Arch Neurol 65: 802-8, 2008 (PubMed ID: 18541801) |
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PINK1:
(Ala78Val)
(Pro196fs)
(Asp297fs)
(Thr313Met)
(Met342Val)
(Cys388Arg)
(Trp437Arg)
(Val482Met)
(Asn542Ser)
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ID: 345 | |
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Savettieri G, Annesi G, Civitelli D, Cirò Candiano IC, Salemi G, Ragonese P, Annesi F, Tarantino P, Terruso V, D'Amelio M, Quattrone A. Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early-onset Parkinson's disease. Parkinsonism Relat Disord 14: 509-12, 2008 (PubMed ID: 18329316) |
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PINK1:
(Asp297fs)
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ID: 348 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
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