MDSGene

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Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Scornaienchi, 2012	Mutational screen	3	n.a.	67%	41(+/-13)	p.Gln126Pro: hom p.Trp437: hom p.Gln456: hom
Samaranch, 2010	Family study	6	n.a.	50%	30(+/-10)	p.Leu485_Arg497del: hom p.Glu417_Arg497del + p.Leu485_Arg497del: comp. het.
Keyser, 2010	Mutational screen	3	I	0%	43(+/-5)	p.Tyr258*: hom
Cazeneuve, 2009	Family study	3	n.a.	67%	16(+/-5)	deletions of PINK1 exons 4-8 + 88bp insertion in DDOST intron 2: hom
Camargos, 2009	Mutational screen	1	n.a.	0%	24	c.(1251+1_1252-1)_(1488+1_1489-1)del: hom
Myhre, 2008	Family study	4	n.a.	25%	30(+/-7)	p.Pro416Arg: hom p.Ser419Pro: hom
Guo, 2008	Other/Mixed	4	A	n.a.	26(+/-10)	p.Thr313Met: hom p.Arg492*: hom
Choi, 2008	Mutational screen	1	A	n.a.	n.a.	p.Asn521Ilefs*2 + p.Asn367Ser: comp. het.
Kumazawa, 2008	Mutational screen	5	n.a.	20%	34(+/-20)	p.Thr313Met: hom p.Cys388Arg: hom p.Trp437Arg: hom p.Asp297Metfs*22: hom Show more (+1)
Moro, 2008	Mutational screen	1	n.a.	0%	31	p.Val170Gly: hom