Table 1.
CFTR gene mutation | Homozygous | Heterozygous | No. of patients |
Phe508del | 46 | 12 | 58 |
E1104X | 10 | 5 | 15 |
G542X | 3 | 5 | 8 |
N1303K | 4 | 2 | 6 |
711 + 1G > T | 2 | 2 | 4 |
W1282X | 2 | 1 | 3 |
4268 + 2T > G | 2 | 0 | 2 |
G85E | 1 | 1 | 2 |
1524 + 5 InsC | 0 | 2 | 2 |
R764X | 1 | 0 | 1 |
R1158X | 1 | 0 | 1 |
I1203V | 1 | 0 | 1 |
1677delTA | 1 | 0 | 1 |
del ex1,et 2 | 0 | 1 | 1 |
R785X | 0 | 1 | 1 |
R1066C | 0 | 1 | 1 |
3729 delA insTCT | 0 | 1 | 1 |
Unknown | - | - | 28 |