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Figure 1 | Respiratory Research

Figure 1

From: Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid

Figure 1

Pedigree of the family studied. Both parents (I-1 and I-2) were dead when the AAT study was performed. The four siblings studied correspond to 3 males (II-1, II-2 and II-4) and a female (II-3). The index case is II-4, indicated by the arrow. None of them had any children. Allele combination of the QOPorto and QOMadrid mutations and the normal variants, M2 (G/A, Arg101His) and M3 (A/C, Glu376Asp) found in each individual are depicted below each family member. Corresponding AAT serum level are also shown.

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Respiratory Research

ISSN: 1465-993X

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