Table 2.
Mutations in the CFTR gene | n:24 |
Homozygous p.F508del | 8 |
Homozygous p.G542X | 2 |
Heterozygous p.F508del and heterozygous c.489+1G>T p.(?) | 1 |
Heterozygous p.F508del and heterozygous (c.3846G>A; p.(Trp1282Ter) | 2 |
Homozygous c.1312A>G p.(Thr438Ala) | 1 |
Heterozygous c.3368-2A>G p.(?) and heterozygous c.580-1G>T p.(?) | 1 |
Heterozygous c.1000C>T p.(Arg334Trp) and heterozygous c.3484C>T p.(Arg1162Ter) | 1 |
Homozygous p.V470M | 1 |
Homozygous c.3484C>T p.(Arg1162Ter) | 1 |
Negative genetic study | 5 |
Without genetic study | 1 |
CFTR, cystic fibrosis transmembrane conductance regulator.