From: Twenty years of surveillance in Rett syndrome: what does this tell us?
Mutation type, n (%) | |
---|---|
C-terminal | 27 (9.0) |
Early truncating | 21 (7.0) |
Large deletion | 21 (7.0) |
p.Arg106Trp | 14 (4.7) |
p.Arg133Cys | 23 (7.7) |
p.Arg168*a | 34 (11.3) |
p.Arg255* | 18 (6.0) |
p.Arg270* | 25 (8.3) |
p.Arg294* | 24 (8.0) |
p.Arg306Cys | 19 (6.3) |
p.Thr158Met | 32 (10.7) |
Other | 42 (14.0) |