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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states

Fig. 3

Isoelectric focusing gel showing a pure Pi Mmalton profile among the main other classical A1AT Pi profiles: 1:M1M2; 2:M1; 3:M1M4; 4:M1M3; 5:M1V; 6:M1X; 7: M1S; 8: Mmalton; 9:M1Z; 10:M2Z; 11:Z; 12:M1Z et 13:M3Z. We can particularly notice the very weak expression of the bands in the Mmalton lane compared to others lanes. This ‘pure’ Mmalton profile can correspond to a Mmalton homozygosity or a Mmalton/Null compound heterozygosity

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172