MDSGene

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carrying

Country

Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Wei, 2018	Other/Mixed	1	n.a.	100%	16	p.Glu470* + p.Asn51Ser: comp. het.
Conedera, 2016	Other/Mixed	1	n.a.	0%	17	p.Arg498*: hom
Lohmann, 2015	Family study	2	n.a.	50%	47(+/-8)	p.Leu34Arg: hom
Gündüz, 2014	Family study	2	n.a.	50%	14(+/-2)	p.Arg498*: hom
Yalcin-Cakmakli, 2014	Family study	2	n.a.	50%	12(+/-3)	p.Arg498*: hom
Paisán-Ruiz, 2010	Other/Mixed	4	n.a.	25%	20(+/-4)	p.Arg498*: hom
Di Fonzo, 2009	Family study	4	C	50%	15(+/-4)	p.Thr22Met + c.1144+1G>T: comp. het. p.Arg498*: hom
Shojaee, 2008	Other/Mixed	10	n.a.	80%	20	p.Arg378Gly: hom