Overview of included studies for PFBC-JAM2:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Schottlaender, 2020 Family study 7 n.a. 71% n.a. p.Arg229*: hom
p.Arg108His
+ c.395-1dupG: comp. het.
p.Arg60*: hom
Cen, 2020 Mutational screen 4 A 25% n.a. p.Leu48*: hom
p.Met1?: hom
p.Trp168Cys
+ c.(67+1_68-1)_(394+1_395-1): comp. het.