MDSGene

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Country

Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Mainka, 2020	Case report/Case series	2	n.a.	100%	n.a.	p.Gly173*: hom
Unknown, 2019	Other/Mixed	2	B	0%	1(+/-0)	p.Ala15Profs*100: hom
Nakagama, 2019	Case report/Case series	2	n.a.	0%	n.a.	c.304+2_304+13del12 + p.Cys171Tyr: comp. het.
AlSubhi, 2017	Case report/Case series	10	n.a.	60%	1(+/-1)	p.Ala176Val: hom p.Met1?: hom p.Trp124Arg: hom
Zielonka, 2015	Case report/Case series	2	n.a.	100%	0(+/-0)	p.Arg177Pro: hom
Koht, 2014	Family study	2	A	0%	2(+/-1)	p.Tyr123Cys: hom
Leuzzi, 2013	Case report/Case series	1	C	0%	0	p.Lys251* + p.Arg150Gly: comp. het.
Thibert, 2012	Case report/Case series	1	n.a.	0%	1	p.Ser136Phe + p.Arg150Gly: comp. het.
Dill, 2012	Case report/Case series	1	n.a.	0%	0	p.Arg219*: hom
Lohmann, 2012	Family study	2	n.a.	50%	2(+/-1)	p.Thr151Glyfs*2: hom