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. 2015 Mar 12;22:107–113. doi: 10.1007/8904_2015_418

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)