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Mutations in
PARK2
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1
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PARK2 ex2dup (breakpoints not mapped)
()
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EX2
UBL |
Chaudhary S, 2006
Simon-Sanchez J, 2008
Sironi F, 2008
Nuytemans K, 2009
Brüggemann N, 2009
Koziorowski D, 2009
Pankratz N, 2009
Keyser RJ, 2009
Guo JF, 2010
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2
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PARK2 ex3del (breakpoints not mapped)
()
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EX3
UBL |
Lücking CB, 1998
Hattori N, 1998
Nisipeanu P, 1999
Tassin J, 2000
Kobayashi T,, 2000
Lu CS, 2001
van de Warrenburg BP, 2001
Hedrich K, 2001
Hedrich K, 2002
Hoenicka J, 2002
Nichols WC, 2002
Wu RM, 2002
Kobayashi T, 2003
Periquet M, 2003
Illarioshkin SN, 2003
Poorkaj P, 2004
Sasaki S, 2004
Wang T, 2004
Capecci M, 2004
Varrone A, 2004
Poorkaj P, 2005
Bertoli-Avella AM, 2005
Shyu WC, 2005
De Rosa A, 2006
Sun M, 2006
Chung EJ, 2006
Shadrina MI, 2007
Scarciolla O, 2007
Lesage S, 2008
Chung SJ, 2008
Moro E, 2008
Aguiar P de C, 2008
Guo JF, 2008
Sironi F, 2008
Lohmann E, 2009
Macedo MG, 2009
Barsottini OG, 2009
Brüggemann N, 2009
Keyser RJ, 2009
Guo JF, 2010
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3
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PARK2 ex3dup (breakpoints not mapped)
()
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EX3
UBL |
Bonifati V, 2001
Kann M, 2002
Nichols WC, 2002
Foroud T, 2003
Periquet M, 2003
Wiley J, 2004
Lesage S, 2008
Sironi F, 2008
Lohmann E, 2009
Nuytemans K, 2009
Guo JF, 2010
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4
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PARK2 ex3-4del (breakpoints not mapped)
()
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EX3-4
UBL |
Hattori N, 1998
Kobayashi T,, 2000
Ujike H, 2001
Lücking CB, 2001
Hedrich K, 2002
Kann M, 2002
Nichols WC, 2002
Foroud T, 2003
Rawal N, 2003
Periquet M, 2003
Wiley J, 2004
Bertoli-Avella AM, 2005
Shyu WC, 2005
De Rosa A, 2006
Clark LN, 2006
Biswas A, 2006
Shadrina MI, 2007
Lesage S, 2008
Simon-Sanchez J, 2008
Moro E, 2008
Wang Y, 2008
Guo JF, 2008
Sironi F, 2008
Lohmann E, 2009
Macedo MG, 2009
Bardien S, 2009
Pankratz N, 2009
Keyser RJ, 2009
Sammler EM, 2009
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5
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PARK2 ex3-5del (breakpoints not mapped)
()
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EX3-5
UBL |
Kobayashi T,, 2000
Rawal N, 2003
Periquet M, 2003
Shadrina MI, 2007
Lesage S, 2008
Sironi F, 2008
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6
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PARK2 ex5-6del (breakpoints not mapped)
()
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EX5-6
ring1 |
Muñoz E, 2002
Scherfler C, 2004
Bertoli-Avella AM, 2005
Hertz JM, 2006
Scarciolla O, 2007
Sironi F, 2008
Pankratz N, 2009
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7
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PARK2 ex6del (breakpoints not mapped)
()
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EX6
ring1 |
Nichols WC, 2002
Foroud T, 2003
Rawal N, 2003
Periquet M, 2003
Bertoli-Avella AM, 2005
Chaudhary S, 2006
Simon-Sanchez J, 2008
Moro E, 2008
Chan DK, 2008
Sironi F, 2008
Nuytemans K, 2009
Pankratz N, 2009
Guo JF, 2010
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8
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PARK2 ex6-7del (breakpoints not mapped)
()
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EX6-7
ring1 |
Maruyama M, 2000
Scherfler C, 2004
Bertoli-Avella AM, 2005
Sironi F, 2008
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9
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PARK2 Arg42Pro
(g.0289447G>C)
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EX2
UBL |
Terreni L, 2001
Hedrich K, 2002
Bertoli-Avella AM, 2005
Clark LN, 2006
Pellecchia MT, 2007
Wang Y, 2008
Sironi F, 2008
Macedo MG, 2009
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10
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PARK2 Ala82Glu
(g.0470111C>A)
Pathogenic nature unclear
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EX3
L1 |
Hedrich K, 2001
Varrone A, 2004
Kay DM, 2007
Lesage S, 2008
Håkansson A, 2008
Sironi F, 2008
Nuytemans K, 2009
Brooks J, 2009
Pankratz N, 2009
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11
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PARK2 Met192Leu
(g.0678668A>C)
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EX5
L1 |
Hedrich K, 2002
Clark LN, 2006
Wang Y, 2008
Okubadejo N, 2008
Sironi F, 2008
Bardien S, 2009
Nuytemans K, 2009
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12
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PARK2 Cys212fs
(g.0759401delT)
Pathogenic nature unclear
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EX6
L1 |
Sironi F, 2008
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13
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PARK2 Ala230Thr
(g.0759455G>A)
Pathogenic nature unclear
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EX6
L1 |
Sironi F, 2008
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14
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PARK2 Cys238Trp
(g.0759481C>G)
Pathogenic nature unclear
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EX6
ring1 |
Sironi F, 2008
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15
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PARK2 Thr240Met
(g.0759486C>T)
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EX6
ring1 |
Foroud T, 2003
Periquet M, 2003
Madegowda RH, 2005
Schlitter AM, 2006
Deng H, 2006
Bras J, 2008
Sironi F, 2008
Amboni M, 2009
Camargos ST, 2009
Pankratz N, 2009
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16
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PARK2 Cys253Tyr
(g.0946918GA)
Pathogenic nature unclear
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EX7
ring1 |
Sun M, 2006
Wang Y, 2008
Sironi F, 2008
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17
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PARK2 Arg275Trp
(g.0946983C>T)
Pathogenic nature unclear
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EX7
ring1 |
Abbas N, 1999
Pramstaller PP, 2002
Hedrich K, 2002
Kann M, 2002
Nichols WC, 2002
Foroud T, 2003
Rawal N, 2003
Periquet M, 2003
Scherfler C, 2004
Wiley J, 2004
Hedrich K, 2004
Arias Vásquez A, 2004
Klein C, 2005
Sinha R, 2005
Clark LN, 2006
Sun M, 2006
Lesage S, 2008
Wang Y, 2008
Sironi F, 2008
Lohmann E, 2009
Macedo MG, 2009
Nuytemans K, 2009
Brooks J, 2009
Brüggemann N, 2009
Pankratz N, 2009
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18
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PARK2 Leu307
(g.1163434C>T)
Not pathogenic
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EX8
L2 |
Kay DM, 2007
Sironi F, 2008
Brüggemann N, 2009
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19
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PARK2 Arg402Cys
(g.1372634C>T)
Pathogenic nature unclear
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EX11
L3 |
Poorkaj P, 2004
Varrone A, 2004
Bertoli-Avella AM, 2005
Schlitter AM, 2006
Chaudhary S, 2006
Sun M, 2006
Kay DM, 2007
Moro E, 2008
Sironi F, 2008
Macedo MG, 2009
Bardien S, 2009
Nuytemans K, 2009
Brooks J, 2009
Brüggemann N, 2009
Koziorowski D, 2009
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20
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PARK2 Glu409Stop
(g.1372655G>T)
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EX11
L3 |
Sironi F, 2008
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21
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PARK2 *94A>G
(g.1382798A>G)
Pathogenic nature unclear
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3'UTR
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Sironi F, 2008
Bardien S, 2009
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22
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PARK2 *94_95delinsGCGC
(g.1382798_1382799delins4)
Pathogenic nature unclear
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3'UTR
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Sironi F, 2008
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Selection: Publication ID = 278
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