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Mutations in
PARK2
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1
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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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2
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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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3
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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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4
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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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5
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PARK2 Ser167Asn (g.0531638G>A)
Not pathogenic
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EX4 L1 |
Hattori N, 1998 Wang M, 1999 Satoh J, 1999 Hu CJ, 2000 Mellick GD, 2001 Oliveri RL, 2001 Mata IF, 2002 Eerola J, 2002 Foroud T, 2003 Oliveira SA, 2003 Lücking CB, 2003 Peng R, 2003 Sinha R, 2005 Li X, 2005 Clark LN, 2006 Kay DM, 2007 Ghione I, 2007 Biswas A, 2007 Wu YR, 2009 Koziorowski D, 2009 Martínez HR, 2010
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6
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PARK2 Gly179fs (g.0678630delG)
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EX5 L1 |
Hattori N, 1998
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Selection: Publication ID = 198
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