Fig. 1From: Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous statesPart of DNA sequencing of the SERPINA1 gene, showing the deletion of three nucleotides in exon 2, codon 52 (TTC > 0) at the homozygous state (a Phe amino acid residue is deleted). HGVS nomenclature: SERPINA1:c.154_156del; p. Phe52delBack to article page