PMC5198725_01
Sanger sequencing profile of the known Z variant and the novel SERPINA1 variant.
gr1.jpg
PMC5198725_01_gr1.jpg
fig1
DNA sequencing showed heterozygosity for the Z variant and a novel missense variant p.Phe232Leu (p.Phe208Leu) (c.696 C > G, reference sequence NM_001002235) (Fig. 1).