Overview of included studies for PFBC-XPR1:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Anheim, 2016 Mutational screen none 2 C 100% 31 p.Leu87Pro: het
Legati, 2015 Other/Mixed none 9 C 67% 42(+/-4) p.Leu140Pro: het
p.Leu145Pro: het
p.Ser136Asn: het