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, 2016Mutational screennone2C10031p.Leu87Pro: het
Legati, 2015Other / Mixednone9C6742 (+/-4)p.Leu140Pro: het
p.Leu145Pro: het
p.Ser136Asn: het