MDSGene

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carrying

Study	Study design	Age restriction	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Tian, 2018	Other/Mixed	none	3	n.g.	67%	n.g.	p.Asn255Lys: het
Yin, 2018	Mutational screen	none	7	A	14%	n.g.	p.Leu319Arg: het
Imbrici, 2017	Case report/Case series	none	1	n.g.	0%	n.g.	p.Glu283Lys: het
Trujillano, 2017	Mutational screen	none	1	n.g.	100%	n.g.	p.Gly336Glu: het
Tristán-Clavijo, 2016	Family study	none	1	H	0%	n.g.	p.Arg324Thr: het
Mestre, 2016	Family study	none	5	n.g.	20%	n.g.	p.Phe249Cys: het
Brownstein, 2016	Family study	none	6	n.g.	33%	n.g.	p.Ile314Thr: het
Tacik, 2015	Family study	none	1	C	100%	n.g.	p.Val404Ile: het
Lassche, 2014	Case report/Case series	none	1	n.g.	100%	n.g.	p.Ile262Met: het
Tan, 2013	Case report/Case series	none	1	I	0%	n.g.	p.Ala242Pro: het