Table 1. Summary of known GLA mutations in Fabry participants.
DNA | Protein | N |
---|---|---|
c.816C>A | p.N272K | 2 |
c.809T>C | p.V269A | 1 |
c.7365A>G | p.A156T | 1 |
c.1042dupG | p.A348GfsX27 | 1 |
c.334C>T | p.R112C | 1 |
c.26delA | – | 1 |
c.125A>G | p.M42V | 1 |
c.751G>T | p.E251X | 1 |