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. 2014 Mar 6;9(3):e90945. doi: 10.1371/journal.pone.0090945

Table 1. Mutations included in the kits used for the molecular diagnosis of CF patients.

Kit Detected mutations
ASO16 Roche DF508, G542X, G551D, R553X, W1282X, N1303K, R117H, 621+1G >T, R334W, R347P, A455E, DI507, 1717-1G >A, S549N, R560T, 3849+10Kb C >T
ASO26 Roche DF508, G542X, G551D, R553X, W1282X, N1303K, R117H, 621+1G >T, R334W, R347P, A455E, DI507, 1717-1G >A, R560T, 3849+10KbC>T, G85E, 2307insA, G480C, A559T, R1162X, 3659delC, S1255X, R347H, 2789+5G>A, 405+3 A>C, 3120+1G>A
INNOLiPA CFTR36 Innogenetics F508del, G542X, G551D, R553X, W1282X, N1303K, R117H, 621+1G>T, R334W, R347P, A455E, I507del, 1717-1G>A, R560T, 3849+10KbC>T, G85E, R1162X, 3659delC, 2789+5G>A, 3120+1G>A, 711+1G>T, 3905insT, S1251N, Q552X, I148T, 1898+1G>A, 394delTT, 1078delT, 2183AA>G, 2184delA, E60X, 2143delT, 711+5G>A, 3199del6, 3272-26A>G, dele2,3