Overview of included studies for PARK-PINK1:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Albanese, 2005 Case report/Case series 1 n.a. 100% 39 p.Ala168Pro: hom
Li, 2005 Family study 3 n.a. 33% 40(+/-3) p.Cys388Arg: hom
c.1123+1247_*881del: hom
Rogaeva, 2004 Mutational screen 2 n.a. n.a. 30 p.Glu240Lys
+ p.Leu489Pro: comp. het.
p.Leu347Pro: hom
Rohé, 2004 Family study 1 n.a. 0% 28 p.Asp525Valfs*38: hom
Hatano, 2004 Family study 10 n.a. 30% 27(+/-5) p.Arg246*: hom
p.Gln239*
+ p.Arg492*: comp. het.
p.His271Gln: hom
p.Leu347Pro: hom
p.Glu417Gly: hom
 Show more (+2)
Valente, 2004 Mutational screen 2 n.a. 50% 38(+/-1) p.Arg464His
+ p.Cys92Phe: comp. het.
p.Ala168Pro: hom
Valente, 2004 Family study 9 n.a. 56% 36(+/-8) p.Gly309Asp: hom
p.Trp437*: hom
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95
$('span[name=cDNA],span[name=Reference],span[name=Protein1],span[name=Alias1]').each(function() { if ($(this).text().length > 15) $(this).text($(this).text().substring(0,15) + '...'); });