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Overview of included studies for PxMD-PNKD:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Liang, 2015 Family study 17 A 100% 0 p.Ala7Val: het
Pons, 2012 Family study 11 C 73% 1(+/-1) p.Ala7Val: het
Ghezzi, 2009 Case report/Case series 1 n.a. 100% n.a. p.Ala33Pro: het
Hempelmann, 2006 Family study 6 B 100% n.a. p.Ala7Val: het
Chen, 2005 Family study 14 C 57% n.a. p.Ala7Val: het
p.Ala9Val: het
Rainier, 2004 Family study 12 C 50% n.a. p.Ala7Val: het
p.Ala9Val: het