Variantes de enfermedad de Parkinson autosómica dominante

SNCA: PARK1/4

cDNA

Proteína

Bibliografía

c.88G>C

p.A30P

Kruger A, 1998

c.188G>A

p.E46K

Zarranz JJ, 2004

c.209G>A

p.A53T 

Polymeropoulos MH, 1996

SNCA_triplication

NA

Singleton AB, 2003

SNCA_duplication

NA

Chartier-Harlin MC, 2004

 
LRRK2: PARK8

cDNA

Proteína

Bibliografía

c.4111A>G

p.I1371V

Paisán-Ruiz C, 2005

c.4321C>G

p.R1441G

Paisán-Ruiz C, 2004

c.4321C>T

p.R1441C

Zimprich A, 2004

c.4322G>A

p.R1441H

Zabetian CP, 2005

c.4883G>C

p.R1628PRFs

Ross OA, 2008

c.5096A>G

p.Y1699C

Paisán-Ruiz C, 2004

c.6035T>C

p.I2012T

Tomiyama H, 2006

c.6055G>A

p.G2019S

Nichols WC, 2005

c.6059T>C

p.I2020T

Zimprich A, 2004

c.7068C>T

p.T2356I

Khan NL, 2005

c.7153G>A

p.G2385RRF

Mata IF, 2005, Di Fonzo A, 2006

Hardy J, Lewis P, Revesz T, Lees A, Paisan-Ruiz C. The genetics of Parkinson’s syndromes: a critical review. Current Opinion in Genetics & Development 2009, 19:254–65.