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Mutations in
PARK2
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1
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PARK2 ex1del (breakpoints not mapped)
()
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EX1
UBL |
Hedrich K, 2002
Shyu WC, 2005
Aguiar P de C, 2008
Guo JF, 2008
Barsottini OG, 2009
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2
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PARK2 ex2del (breakpoints not mapped)
()
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EX2
UBL |
Hedrich K, 2001
Hedrich K, 2002
Kann M, 2002
Periquet M, 2003
Poorkaj P, 2004
Wang T, 2004
Wu RM, 2005
Poorkaj P, 2005
Bertoli-Avella AM, 2005
Shyu WC, 2005
De Rosa A, 2006
Chaudhary S, 2006
Sun M, 2006
Chung EJ, 2006
Scarciolla O, 2007
Lesage S, 2008
Bras J, 2008
Simon-Sanchez J, 2008
Wang Y, 2008
Choi JM, 2008
Guo JF, 2008
Wickremaratchi MM, 2009
Pankratz N, 2009
Guo JF, 2010
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3
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PARK2 ex2-3del (breakpoints not mapped)
()
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EX2-3
UBL |
Foroud T, 2003
Wiley J, 2004
Wu RM, 2005
Bertoli-Avella AM, 2005
Shyu WC, 2005
De Rosa A, 2006
Scarciolla O, 2007
Lesage S, 2008
Wickremaratchi MM, 2009
Pankratz N, 2009
Guo JF, 2010
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4
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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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5
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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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6
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PARK2 ex5del (breakpoints not mapped)
()
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EX5
L1 |
Hattori N, 1998
Hedrich K, 2001
Bonifati V, 2001
Hoenicka J, 2002
Kobayashi T, 2003
Scherfler C, 2004
Hedrich K, 2004
Bertoli-Avella AM, 2005
Shyu WC, 2005
Clark LN, 2006
Wang Y, 2008
Lohmann E, 2009
Lee MJ, 2009
Pankratz N, 2009
Guo JF, 2010
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7
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PARK2 ex7del (breakpoints not mapped)
()
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EX7
ring1 |
Klein C, 2000
Hedrich K, 2001
Foroud T, 2003
Illarioshkin SN, 2003
Djarmati A, 2004
Shyu WC, 2005
Inzelberg R, 2005
Adel S, 2006
Hertz JM, 2006
Chaudhary S, 2006
Chung EJ, 2006
Chan DK, 2008
Brüggemann N, 2009
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8
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PARK2 ex8del (breakpoints not mapped)
()
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EX8
ring1 |
Nichols WC, 2002
Foroud T, 2003
Scherfler C, 2004
Poorkaj P, 2004
Bertoli-Avella AM, 2005
Shyu WC, 2005
Chaudhary S, 2006
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9
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PARK2 ex10-12del (breakpoints not mapped)
()
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EX10-12
IBR-ring2 |
Shyu WC, 2005
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10
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PARK2 Cys212Gly
(g.0759401T>G)
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EX6
L1 |
Shyu WC, 2005
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11
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PARK2 Arg256Cys
(g.0946926C>T)
Pathogenic nature unclear
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EX7
ring1 |
Abbas N, 1999
Hedrich K, 2002
Periquet M, 2003
Shyu WC, 2005
Schlitter AM, 2006
Lesage S, 2008
Moro E, 2008
Nuytemans K, 2009
Pankratz N, 2009
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12
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PARK2 Val258Met
(g.0946932G>A)
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EX7
ring1 |
Shyu WC, 2005
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13
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PARK2 Gln311His
(g.1163448G>T)
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EX8
L2 |
Shyu WC, 2005
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14
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PARK2 Gly430Asp
(g.1382595G>A)
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EX12
ring2 |
Hedrich K, 2002
Scherfler C, 2004
Shyu WC, 2005
Sun M, 2006
Mellick GD, 2009
Pankratz N, 2009
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15
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PARK2 Cys441Arg
(g.1382627T>C)
Pathogenic nature unclear
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EX12
ring2 |
Shyu WC, 2005
Chan DK, 2008
Guo JF, 2008
Lohmann E, 2009
Lee MJ, 2009
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Selection: Publication ID = 258
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