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Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Zadikoff, 2006	Case report/Case series	1	n.a.	100%	37	p.Gln456*: hom
Tan, 2006	Mutational screen	2	n.a.	50%	38(+/-19)	p.Arg246: hom p.Tyr258: hom
Ibáñez, 2006	Other/Mixed	12	n.a.	50%	35(+/-8)	p.Gln456: hom p.Cys125Gly + p.Gln456: comp. het. p.Glu240Lys: hom p.Arg492* + p.Leu369Pro: comp. het. p.Gly386Ala: hom p.Gly409Val: hom p.Lys520Argfs3: hom p.Lys24Glyfs31 Show more (+5) + p.Cys549Trpfs*5: comp. het.
Bonifati, 2005	Mutational screen	3	n.a.	33%	32(+/-3)	p.Ala168Pro: hom p.Trp437: hom p.Gln456: hom
Klein, 2005	Mutational screen	2	n.a.	50%	41(+/-12)	p.Arg279His + p.Ser284=: comp. het. p.Gln534_Ser535insGln: hom
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.Arg492 + p.Gln239*: comp. het. p.His271Gln: hom p.Leu347Pro: hom p.Glu417Gly: hom Show more (+2)