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Case Report

Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism

, , , , &
Pages 891-897 | Published online: 07 May 2015

Figures & data

Figure 1 Chest computed tomography scan. Coronal (left) and horizontal (right) images show severe bronchiectasis with large cysts and mucus plugging.

Figure 1 Chest computed tomography scan. Coronal (left) and horizontal (right) images show severe bronchiectasis with large cysts and mucus plugging.

Figure 2 Capillary zone electrophoresis. A decrease of the alpha-1 globin peak is notable.

Figure 2 Capillary zone electrophoresis. A decrease of the alpha-1 globin peak is notable.

Figure 3 Sequence of a regular and mutated SERPINA-1 gene. (A) DNA sequencing chromatogram of reference sequence (upper) and patient sequence (middle and lower). (B) Overview of SERPINA-1 gene location, structure, and patient’s mutation with DNA and amino acid sequence. (C) Overview of mature, immature, and patient SERPINA-1 protein and domains.

Abbreviations: Fwd-Seq, forward sequence; Rvs-Seq, reverse sequence; UTR, untranslated region.
Figure 3 Sequence of a regular and mutated SERPINA-1 gene. (A) DNA sequencing chromatogram of reference sequence (upper) and patient sequence (middle and lower). (B) Overview of SERPINA-1 gene location, structure, and patient’s mutation with DNA and amino acid sequence. (C) Overview of mature, immature, and patient SERPINA-1 protein and domains.