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Mutations in
PARK2
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1
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PARK2 ex2del (breakpoints not mapped)
()
|
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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2
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PARK2 ex2dup (breakpoints not mapped)
()
|
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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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 ex2-4dup (breakpoints not mapped)
()
|
EX2-4
UBL |
Foroud T, 2003
Periquet M, 2003
Poorkaj P, 2004
Lesage S, 2008
Simon-Sanchez J, 2008
Brüggemann N, 2009
Pankratz N, 2009
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5
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PARK2 ex2-4trip (breakpoints not mapped)
()
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EX2-4
UBL |
Mata IF, 2005
Pankratz N, 2009
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6
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PARK2 ex3-4del (breakpoints not mapped)
()
|
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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7
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PARK2 ex3-6del (breakpoints not mapped)
()
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EX3-6
UBL-ring1 |
Rawal N, 2003
Lesage S, 2008
Lohmann E, 2009
Nuytemans K, 2009
Pankratz N, 2009
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8
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PARK2 ex4del (breakpoints not mapped)
()
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EX4
L1 |
Kitada T, 1998
Hattori N, 1998
Abbas N, 1999
Maruyama M, 2000
Hayashi S, 2000
Ujike H, 2001
Jeon BS, 2001
Hedrich K, 2002
Kann M, 2002
Wu RM, 2002
Foroud T, 2003
Rawal N, 2003
Kim JS, 2003
Periquet M, 2003
Dogu O, 2004
Wang T, 2004
Sun M, 2006
Shadrina MI, 2007
Lesage S, 2008
Choi JM, 2008
Guo JF, 2008
Myhre R, 2008
Lohmann E, 2009
Lee MJ, 2009
Macedo MG, 2009
Bardien S, 2009
Pankratz N, 2009
Keyser RJ, 2009
Guo JF, 2010
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9
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PARK2 ex4dup (breakpoints not mapped)
()
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EX4
L1 |
Hedrich K, 2001
Chaudhary S, 2006
Simon-Sanchez J, 2008
Pankratz N, 2009
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10
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PARK2 ex4-5del (breakpoints not mapped)
()
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EX4-5
L1 |
Kann M, 2002
Illarioshkin SN, 2003
Wiley J, 2004
Pankratz N, 2009
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11
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PARK2 ex4-6del (breakpoints not mapped)
()
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EX4-6
ring1 |
Nichols WC, 2002
Foroud T, 2003
Clarimon J, 2005
Pankratz N, 2009
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12
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PARK2 ex5del (breakpoints not mapped)
()
|
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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13
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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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14
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PARK2 ex5-8dup (breakpoints not mapped)
()
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EX5-8
ring1 |
Hertz JM, 2006
Pankratz N, 2009
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15
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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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16
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PARK2 ex8-9del (breakpoints not mapped)
()
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EX8-9
ring1-IBR |
Lücking CB, 1998
Tassin J, 2000
Hoenicka J, 2002
Nichols WC, 2002
Foroud T, 2003
Madegowda RH, 2005
Lohmann E, 2009
Pankratz N, 2009
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17
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PARK2 Arg33Gln
(g.0289420G>A)
|
EX2
UBL |
Hertz JM, 2006
Macedo MG, 2009
Pankratz N, 2009
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18
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PARK2 Gln34fs
(g.0289423_0289424delAG)
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EX2
UBL |
Abbas N, 1999
Hedrich K, 2002
Foroud T, 2003
Gouider-Khouja N, 2003
Illarioshkin SN, 2003
Scherfler C, 2004
Romito LM, 2005
Lesage S, 2008
Guo JF, 2008
Lohmann E, 2009
Brooks J, 2009
Brüggemann N, 2009
Koziorowski D, 2009
Pankratz N, 2009
Guo JF, 2010
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19
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PARK2 Asn52fs
(g.0289477delA)
|
EX2
UBL |
Abbas N, 1999
Hedrich K, 2002
Hoenicka J, 2002
Nichols WC, 2002
Muñoz E, 2002
Rawal N, 2003
Hedrich K, 2004
Sun M, 2006
Dächsel JC, 2006
Lesage S, 2008
Bras J, 2008
Lohmann E, 2009
Nuytemans K, 2009
Camargos ST, 2009
Brooks J, 2009
Pankratz N, 2009
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20
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PARK2 Glu79Stop
(g.0470101G>T)
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EX3
L1 |
Foroud T, 2003
Pankratz N, 2009
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21
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PARK2 Ala82Glu
(g.0470111C>A)
Pathogenic nature unclear
|
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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22
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PARK2 Thr83Ala
(g.0470113A>G)
Pathogenic nature unclear
|
EX3
L1 |
Pankratz N, 2009
|
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23
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PARK2 Pro113fs / ex3 Δ40bp
(g.0470203_0470242del40)
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EX3
L1 |
Farrer M, 2001
Hedrich K, 2002
Nichols WC, 2002
Foroud T, 2003
Chen R, 2003
Scherfler C, 2004
Wiley J, 2004
Poorkaj P, 2004
Hedrich K, 2004
Poorkaj P, 2005
Clark LN, 2006
Sun M, 2006
Wang Y, 2008
Brooks J, 2009
Pankratz N, 2009
Sammler EM, 2009
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24
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PARK2 Thr173Met
(g.0531656C>T)
Pathogenic nature unclear
|
EX4
L1 |
Kay DM, 2007
Pankratz N, 2009
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25
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PARK2 IVS4-9T>A
(g.0678620T>A)
Pathogenic nature unclear
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IVS4
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Pankratz N, 2009
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26
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PARK2 Met192Val
(g.0678668A>G)
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EX5
L1 |
Foroud T, 2003
Dächsel JC, 2006
Pankratz N, 2009
|
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27
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PARK2 Lys211Asn
(g.0759400A>T)
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EX6
L1 |
van de Warrenburg BP, 2001
Kann M, 2002
Nichols WC, 2002
Foroud T, 2003
Klein C, 2005
Hertz JM, 2006
Aguiar P de C, 2008
Barsottini OG, 2009
Pankratz N, 2009
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28
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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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29
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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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30
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PARK2 Arg275Trp
(g.0946983C>T)
Pathogenic nature unclear
|
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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31
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PARK2 Glu310Asp
(g.1163445G>C)
Pathogenic nature unclear
|
EX8
L2 |
Bardien S, 2009
Pankratz N, 2009
|
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32
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PARK2 IVS9+1delG
(g.1183950delG)
Pathogenic nature unclear
|
IVS9
|
Pankratz N, 2009
|
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33
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PARK2 IVS9+5G>T
(g.1183954G>T)
Pathogenic nature unclear
|
IVS9
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Pankratz N, 2009
|
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34
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PARK2 Gly430Asp
(g.1382595G>A)
|
EX12
ring2 |
Hedrich K, 2002
Scherfler C, 2004
Shyu WC, 2005
Sun M, 2006
Mellick GD, 2009
Pankratz N, 2009
|
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35
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PARK2 Pro437Leu
(g.1382616C>T)
Pathogenic nature unclear
|
EX12
ring2 |
Hedrich K, 2002
Nichols WC, 2002
Foroud T, 2003
Rawal N, 2003
Djarmati A, 2004
Poorkaj P, 2004
Hertz JM, 2006
Sun M, 2006
Kay DM, 2007
Nuytemans K, 2009
Brooks J, 2009
Pankratz N, 2009
Brooks JA, 2009
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Selection: Publication ID = 412
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