|
Frequenza
delle mutazioni CF osservate in Piemonte |
|||
|
|
|
|
|
Mutazione |
% |
||
|
|
|
||
|
DF508 |
61.1 |
||
|
G542X |
5.1 |
||
|
N1303K |
3.5 |
||
|
2789+5G>A,
R347P, 2183AA>G, R1162X |
1.6 |
||
|
G85E, 1717-1G>A |
1.3 |
||
|
R117H |
0.9 |
||
|
W1282X,
R553X, 711+5G>A, S1235R |
0.6 |
||
|
|
|
||
|
Ignote |
17.1 |
||
|
|
|
||
|
Note |
83.9 |
||
Dati pubblicati in:
The molecular genetic epidemiology of cystic
fibrosis.
Report of a joint meeting of WHO/ECFTN/CF(M)A/ECFS
Genoa, Italy, 19 June 2002.
Comunicati
da Gabriella Restagno (Torino).