cDNA

Proteína

Bibliografía

c.125G > C

p.R42P

Terreni L, 2001

c.245C > A

p.A82E

Hedrich K, 2001

c.167T > A

p.V56G*m

Hoenicka J, 2002

c.483A > T

p.K161N

Abbas N, 1999

c.633A > T

p.K211N

Lucking CH, 2000

c.635G > A

p.C212Y

Pineda-Trujillo N, 2001

c.714C > G

p.C238W*

Sironi F, 2008

c.719C > G

p.T240R*

Hattori N, 1998

c.719C > T

p.T240M*

Foroud T, 2003; Sun M, 2006

c.758G > A

p.C253Y

Oliveira SA, 2003; Guo JF, 2008

c.766C > T

p.R256C

Abbas N, 1999; Hedrich K, 2002

c.823C > T

p.R275W

Abbas N, 1999

c.850G > C

p.G284R*

Wu RM, 2005

c.865T > G

p.C289G

Lucking CH, 2000

c.983G > A

p.G328E

Lucking CH, 2000

c.1000C > T

p.R334C

Lucking CH, 2000

c.1244C > A

p.T415N

Abbas N, 1999

c.1252T > C

p.C418R*

Bertoli-Avela AM, 2005

c.1289G > A

p.G430D

Lucking CH, 2000

c.1292G > T

p.C431F

Maruyama M, 2000

c.1310C > T

p.P437L*m

Nichols WC, 2002

c.1321T > C

p.C441R

Guo JF, 2008

cDNA

Proteína

Bibliografía

c.275G > T

p.C92Fa

Valente EM, 2004

c.373T > G

p.C125G*

Ibañez P, 2006

c.377A > C

p.Q126P

Prestel J, 2008

c.502G > C

p.A168P

Valente EM, 2004

c.650C > A

p.A217D

Leutenegger AL, 2006

c.718G > A

p.E240Kb

Rogaeva E, 2006

c.813C > A

p.H271Q

Hatano Y, 2004

c.926G > A

P.G309D

Valente EM, 2004

c.938C > T

p.T313M

Zhang YH, 2005

c.1040T > C

p.L347P

Rogaeva E, Hatano Y, 2004

c.1106T > C

p.L369P*

Ibañez P, 2006

c.1195C > G

p.N367S*

Choi JM, 2008

c.1157G > C

p.G386A

Ibañez P, 2006

c.1162T > C

p.C388R

Li Y, 2005

c.1226G > T

p.G409V

Ibañez P, 2006

c.1247C > G

p.P416R

Myhre R, 2008

c.1250A > G

p.E417G

Hatano Y, 2004

c.1255T > C

p.S419P

Myhre R, 2008

c.1309T > C

p.W437R

Kumazawa R, 2008

c.1319G > A

p.G440E

Ishihara-Paul L, 2008

c.1391G > A

p.R464Ha

Valente EM, 2004

c.1466T > C

p.L489Pb

Rogaeva E, 2006

cDNA

Proteína

Bibliografía

c.29T > C

p.L10P

Guo JF, 2008

c.78G > A

p.M26I

Abou-Sleiman P, 2003

c.192G > C

p.E64D

Hering R, 2004

c.497T > C

p.L166P

Bonifati V, 2003

cDNA

Proteína

Bibliografía

c.546C > A

p.F182L

Ning YP, 2008

c.1510G > C

p.G504R

Di Fonzo A, 2007

cDNA

Proteína

Bibliografía

c.1715C > T

p.T572I

Unpublished data

c.1894C > T

p.R632W

Sina F, 2008

c.2222G > A

p.R741Q

Paisán-Ruiz C, 2009

c.2239C > T

p.R747W

Paisán-Ruiz C, 2009

cDNA

Proteína

Bibliografía

c.65C > T

p.T22M*

Di Fonzo A, 2009

c.1132C > G

p.R378G

Shojaee S, 2008