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Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Wang, 2006	Other/Mixed	2	A	n.a.	0(+/-0)	p.Thr106Met + p.Met1?: comp. het. p.Leu127Phe + p.Asn52Ser: comp. het.
Lee, 2006	Case report/Case series	10	A	70%	n.a.	p.Arg25Gly + p.Pro87Ser: comp. het. p.Asp96Asn: comp. het. p.Asn52Ser: hom p.Asn52Ser: comp. het. p.Val56Met: comp. het. p.Thr106Met: comp. het. Show more (+3)
Dudesek, 2001	Case report/Case series	4	n.a.	25%	1(+/-1)	p.Asp136Val: hom p.Asp136Gly + p.Ser15_Arg16insGly: comp. het. p.Pro87Leu + p.Thr67Met: comp. het.
Oppliger, 1997	Case report/Case series	2	n.a.	100%	0(+/-0)	p.Thr67Met + p.Asp136Val: comp. het. p.Val57del + p.Lys29_Ser32del: comp. het.
Hanihara, 1997	Case report/Case series	1	n.a.	0%	2	p.Ile114Val: hom