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. |