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Publications
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Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF. Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol 63: 826-32, 2006 (PubMed ID: 16769863) |
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PARK2:
(ex1dup (breakpoints not mapped))
(ex2del (breakpoints not mapped))
(ex2-4del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex6-8dup (breakpoints not mapped))
(ex7-8del (breakpoints not mapped))
(ex9dup (breakpoints not mapped))
(ex12dup (breakpoints not mapped))
(Asn52fs)
(Pro113fs / ex3 Δ40bp)
(Cys253Tyr)
(Arg275Trp)
(Arg402Cys)
(Gly430Asp)
(Pro437Leu)
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ID: 296 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
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