Figure 2

Confirmation sequencing of the variants detected in the ABCA3 gene, by using a TaqMan probe. (A,B,C,D) the variants c.115 C > G (p.L39V), c.2483 C > T (p.S828F), c.2902 G > A (p.V968M) and c.3613 G > A (p.G1205R) are shown. (E) the two base pairs substitution, c.3601-3602TT > AA, in the exon 24 in ABCA3. (F) Cloning sequencing confirmed that the substitution of two base pairs occurred in the same copy of the ABCA3 gene, that results in p.F1201N.