Fig. 2

A Isoelectrofocusing pattern obtained by Sebia Hydrasys® System on DBS samples. Lines 1–3: standard controls, provided by Hydragel 18 A1AT Isofocusing® kit (Sebia). Lines:4–6 samples. The patient herein described corresponds to samples 4. B Sequence (up) and electropherogram(down) of SERPINA1 region of the patient corresponding to position of Z mutation. Arrows show the specific position of nucleotide (G) that should be change into A in the Z variant. The absence of Z mutation is clear both in the sequence of the patient (line 2) when compared to reference sequence (line 1), and in the electropherogram of the patient