PMC2800015_01
Direct sequencing of the CFTR gene. A novel splice site mutation (c.1766+2T>C, open arrow) and a novel 1-bp duplication (c.3908dupA; Asn1303LysfsX6, filled arrow) were identified.
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F1
This identified compound heterozygous mutations composed of a novel splicing mutation in intron 12 (c.1766+2T>C) and a 1-bp duplication in exon 21 resulting in a frameshift mutation (c.3908dupA; Asn1303LysfsX6) (Fig. 1).