MDSGene

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Country

Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Stephenson, 2019	Family study	2	JA	100%	29(+/-1)	c.90+1dupG: hom
Taghavi, 2017	Other/Mixed	2	n.a.	100%	27(+/-0)	p.Asp24Metfs*3: hom
Di Nottia, 2017	Case report/Case series	1	C	0%	35	p.Thr154Lys: hom
Abbas, 2016	Mutational screen	1	n.a.	100%	22	p.Ile105Phe: hom
Erer, 2016	Mutational screen	1	n.a.	100%	23	c.322+4A>C: hom
Taipa, 2016	Case report/Case series	1	n.a.	100%	22	p.Leu172Gln: hom
Hanagasi, 2016	Family study	3	n.a.	33%	27(+/-7)	p.Gln45*: hom
Bras, 2014	Case report/Case series	1	n.a.	100%	15	c.317_322+5delGTGCAGGTGAC: hom
Darvish, 2013	Mutational screen	3	O	n.a.	n.a.	c.(252+1_253-1)_(322+1_323-1)del: hom
Ghazavi, 2011	Mutational screen	2	n.a.	100%	20(+/-4)	c.91-2A>G: hom p.Ala107Pro: hom
Macedo, 2009	Mutational screen	1	n.a.	100%	34	p.Pro158del: hom
Tarantino, 2009	Other/Mixed	1	n.a.	100%	38	c.-24+66C>G + c.252+8dupA: comp. het.
Guo, 2008	Other/Mixed	2	A	n.a.	19(+/-1)	p.Leu10Pro: hom
Annesi, 2005	Family study	2	n.a.	100%	24	p.Glu163Lys: hom
Hering, 2004	Other/Mixed	1	n.a.	100%	34	p.Glu64Asp: hom
Abou-Sleiman, 2003	Mutational screen	1	JA	n.a.	39	p.Met26Ile: hom
Hague, 2003	Mutational screen	1	H	0%	n.a.	c.410-1G>C + p.Thr19Lysfs*5: comp. het.
Bonifati, 2003	Family study	7	n.a.	n.a.	31(+/-5)	p.Leu166Pro: hom c.-4069_322+1852del: hom