MDSGene

Filter for

carrying

Country

Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Munhoz, 2009	Case report/Case series	1	n.a.	0%	39	Gly2019Ser: het
Covy, 2009	Mutational screen	1	n.a.	n.a.	44	Gly2019Ser: hom
Mata, 2009	Mutational screen	7	n.a.	57%	53(+/-10)	Gly2019Ser: het Arg1441Gly: het
Floris, 2009	Mutational screen	9	n.a.	56%	65(+/-10)	Arg1441Cys: het Gly2019Ser: het
Lohmann, 2009	Family study	5	C	n.a.	n.a.	Gly2019Ser: het
De Rosa, 2009	Other/Mixed	2	n.a.	50%	64(+/-23)	Gly2019Ser: het
Mellick, 2009	Mutational screen	2	n.a.	50%	48(+/-2)	Gly2019Ser: het
Santos-Rebouças, 2008	Case report/Case series	1	C	100%	80	Gly2019Ser: het
Healy, 2008	Case report/Case series	1	C	0%	n.a.	Gly2019Ser: het
Silveira-Moriyama, 2008	Other/Mixed	4	n.a.	0%	58(+/-8)	Gly2019Ser: het