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. 2014 Feb 26;9(2):e89094. doi: 10.1371/journal.pone.0089094

Table 1. Mutation detection efficiency using INNOLiPA tests: CFTR19 and CFTR17TnUpdate.

Mutations detected in a patient Number of CF patients Alleles with no mutation identified Alleles with CF mutations detected using INNOLiPA tests Further molecular analysis
CFTR_19 CFTR_17TnUpdatea
both 503 (68.1%) 0 888 (60.2%) 118 (8.0%) Not necessary
one 109 (14.8%) 109 98 (6.6%) 11 (0.7%) Yes
none 126 (17.1%) 252 0 0 Yes

Legend: a I148T included in CFTR-17TnUpdate was not counted as a mutation if not in cis with c.3067-72del6 (l.n. 3199del6); c.1210(-12)Tn site in intron 9 (l.n.IVS8-Tn) without data on the associated TG repeat was not counted as a mutation.