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Publications
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Valente EM, Salvi S, Ialongo T, Marongiu R, Elia AE, Caputo V, Romito L, Albanese A, Dallapiccola B, Bentivoglio AR. PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann Neurol 56: 336-41, 2004 (PubMed ID: 15349860) |
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PINK1:
(Leu63)
(Arg68Pro)
(Cys92Phe)
(IVS1-7A>G)
(Ala168Pro)
(Pro296Leu)
(IVS4-5G>A)
(Gln355)
(Ser365)
(Ile442Thr)
(Arg464His)
(Glu476Lys)
(IVS7+14C>G)
(Asp525Asn)
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ID: 319 | |
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Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, Elia AE, Ghezzi D, Albanese A, Altavista MC, Antonini A, Barone P, Brusa L, Cortelli P, Martinelli P, Pellecchia MT, Pezzoli G, Scaglione C, Stanzione P, Tinazzi M, Zecchinelli A, Zeviani M, Cassetta E, Garavaglia B, Dallapiccola B, Bentivoglio AR, Valente EM; Italian PD Study Group.. PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. Hum Mutat 29: 565, 2008 (PubMed ID: 18330912) |
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PINK1:
(Leu67Phe)
(Arg68Pro)
(Arg98Trp)
(Ile111Ser)
(Ala124Val)
(Thr145Met)
(Lys186Asn)
(Thr257Ile)
(Leu268Val)
(Arg276Gln)
(Pro296Leu)
(Val317Ile)
(Pro322Leu)
(Ala339Thr)
(Ala383Thr)
(Gly395Val)
(23bp del ex7)
(Ile442Thr)
(Gln456Stop)
(Glu476Lys)
(Asp525Asn)
(Asp537Thr)
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ID: 404 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
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