Skip to main content

Table 2 Comparison between the results obtained in this study and those obtained in a previous study

From: Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study

  Castaldo et al.[14] Mutations observed in the present study
F508del 55.8% (29) 48.62% (141)
N1303K 3.8% (2) 9.31% (27)
G542X 3.8% (2) 8.96% (26)
W1282X 3.8% (2) 1.03% (3)
2183AA>G 5.8% (3) 2.76% (8)
R1162X 0 0
1717-1G>A 1.9% (1) 0
T338I 0 0
R347P 0 0.69% (2)
711+5G>A 0 0
852del22 5.8% (3) 1.03% (3)
4382delA 0 0.69% (2)
1259insA 0 0.34% (1)
4016insT 0 0.34% (1)
R553X 0 0.34% (1)
R1158X 0 0
L1077P 0 1.03% (3)
I502T 0 0
3849+10kbC>T 1.9% (1) 0.34% (1)
D579G 0 0.69% (2)
G1244E 3.8% (2) 0
G1349D 0 0.34% (1)
2789+5G>A 0 1.03% (3)
711+1G>T 0 0
L1065P 0 0
2522insC 0 0
E585X 0 0
G85E 0 0
G178R 0 0
D1152H 0 3.10% (9)
I148T-3195del6 0 0
I148T (alone) 0 4.48% (13)
R334W 0 0
DI507 0 0.69% (2)
I1005R 0 0
3272-26A>G 0 0
2711delT 0 0
L558S 1.9% (1) 0.34% (1)
W1063X 0 0
D110H 0 0
S549R (A>C) 1.9% (1) 0.69% (2)
2184insA 0 0
3131del22 0 0
R709N 0 0
A349V 0 0
4015insA 0 0
Y849X 1.9% (1) 0.34% (1)
G551D 0 1.03% (3)
621+3A>G 0 0.34% (1)
E831X 0 0
I507del 0 0.69% (2)
IVS8 TG12/t5 0 1.03% (3)
H139R (A->G) 0 0.34% (1)
1248+1G>A 0 0.34% (1)
R74W;V201M;D1270N 0 0.69% (2)
S1455X 0 0.34% (1)
dele 2,3 (21kb) 0 0.34% (1)
991del5 0 0.34% (1)
UNKNOWN 7 %(4) 4.83% (14)
F508C 0 0.69% (2)
TOTAL 52 290