Table 1 of Assia, Mol Vis 2010; 16:2487-2493.
Mutation | Described by |
---|---|
T22G | Cazzola et al. [20] |
G41C | Cremonesi et al. [21] |
C18T | Cazzola et al. [20] |
C10T | Cremonesi et al. [15] |
C14G | Cremonesi et al. [21] |
C16T | Cremonesi et al. [15] |
C90T | Cremonesi et al. [15] |
G51C | Camaschella et al. [22] |
G32T/C/A | Martin et al. [23], Kato & Casella [24], Cazzola et al. [20], Cicilliano et al. [25] |
C33T | Balas et al. [26] |
C36G | Cremonesi et al. [15] |
C36A | Mumford et al. [27] |
A37G | Cremonesi et al. [15] |
C39T | Balas et al. [26] |
A40G/C | Beaumont et al. [5] |