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Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Goswami, 2017	Sib pair study	2	I	100%	1(+/-0)	p.Gly428Arg + p.Arg233His: comp. het.
Zhang, 2017	Case report/Case series	4	A	25%	1	p.Arg476Ser + p.Arg233His: comp. het. p.Gly315Ser + c.738-34G>C: comp. het. p.Arg328Gln + p.Gly247Ser: comp. het. p.Arg153*: comp. het. Show more (+1)
Yan, 2017	Case report/Case series	1	A	0%	15	p.His361Gln + p.Arg441Trp: comp. het.
Sun, 2014	Family study	2	A	50%	3(+/-0)	p.Ala335Val + p.Arg484His: comp. het.
Al-Muslamani, 2014	Case report/Case series	1	n.a.	100%	1	p.Arg313Leu: hom
Pons, 2013	Case report/Case series	5	n.a.	0%	0(+/-0)	p.Leu236Pro: hom
Stamelou, 2012	Sib pair study	3	O	33%	1(+/-0)	c.-71C>T + p.Gly428Arg: comp. het.
Szentiványi, 2012	Case report/Case series	1	C	100%	0	p.Glu406Gln + p.Gln243Pro: comp. het.
Chi, 2012	Case report/Case series	6	A	50%	0(+/-0)	p.Arg233His + p.Ile382Thr: comp. het. p.Arg153: comp. het. p.Gln232: comp. het. p.Arg233His: hom p.Arg153*: hom p.Gly315Ser: comp. het. Show more (+3)
Giovanniello, 2012	Case report/Case series	1	C	100%	0	p.Pro251Leu + p.Cys279Phe + p.Arg296Gln: comp. het.