MDSGene

Filter for

carrying

Country

Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Michell, 2005	Case report/Case series	1	C	100%	n.a.	p.Ala53Thr: het
Chartier-Harlin, 2004	Other/Mixed	5	n.a.	40%	48(+/-10)	c.(?_-1471)_(*575_?)dup: het
Farrer, 2004	Other/Mixed	1	C	100%	31	c.(?_-1471)_(*575_?)tri: het
Zarranz, 2004	Family study	12	H	33%	51(+/-13)	p.Glu46Lys: het
Singleton, 2004	Family study	2	n.a.	n.a.	48	c.(?_-1471)_(*575_?)tri: het
Bostantjopoulou, 2001	Mutational screen	8	C	63%	40(+/-7)	p.Ala53Thr: n.a.
Krüger, 2001	Family study	3	C	67%	62(+/-12)	p.Ala30Pro: n.a.
Papapetropoulos, 2001	Other/Mixed	5	C	n.a.	40(+/-16)	p.Ala53Thr: het
Spira, 2001	Other/Mixed	3	C	100%	44(+/-3)	p.Ala53Thr: n.a.
Athanassiadou, 1999	Mutational screen	10	C	60%	48(+/-7)	p.Ala53Thr: het