Table 1.
Classical Fabry mutations
Classical Fabry mutation |
---|
• c.274G>T(D92Y) |
• c.319C.T(p.Q107X) |
• c.394G>A(p.G132R) |
• c.612G>A(p.W204X) |
• c.901C>T(p.R301X) |
• c.1034C>G(p.5345X) |
• c.1066C>G(p.R356W) |
• c.1081G>C(p.G361X) |
• c.1087C>T(p.R363C) |
• c.1095delT(p.Y365X) |
• c.1194delA(p.E398DfsX6) |
• c.1228A>G(p.T410A) |