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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.
