Overview of included studies for PxMD-SLC1A3:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Iwama, 2018 Case report/Case series 1 A 0% n.a. p.Met128Arg: het
Choi, 2017 Mutational screen 1 n.a. 100% n.a. p.Thr318Ala: het
Choi, 2017 Family study 2 n.a. 100% n.a. p.Val393Ile: het
de Vries, 2009 Family study 3 C 33% n.a. p.Cys186Ser: het
Jen, 2005 Case report/Case series 1 n.a. 100% n.a. p.Pro290Arg: het