MDSGene

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Country

Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Appel-Cresswell, 2013	Case report/Case series	1	n.a.	100%	60	p.His50Gln: n.a.
Proukakis, 2013	Other/Mixed	1	C	0%	71	p.His50Gln: het
Kiely, 2013	Family study	2	C	50%	30(+/-15)	p.Gly51Asp: het
Kojovic, 2012	Other/Mixed	1	n.a.	0%	n.a.	c.(?_-1471)_(*575_?)dup: hom
Garraux, 2012	Case report/Case series	1	C	0%	30	c.(?_-1471)_(*575_?)dup: het
Meeus, 2012	Mutational screen	1	n.a.	n.a.	77	c.(?_-1471)_(*575_?)dup: het
Sekine, 2010	Family study	1	A	100%	28	c.(?_-1471)_(*575_?)tri: het
Shin, 2010	Other/Mixed	2	n.a.	0%	52(+/-5)	c.(?_-1471)_(*575_?)dup: het
Sironi, 2010	Other/Mixed	1	C	0%	41	c.(?_-1471)_(*575_?)dup: het
Nishioka, 2009	Other/Mixed	8	n.a.	63%	48(+/-11)	c.(?_-1471)_(*575_?)dup: het