- Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon. Satoh, K., Nukiwa, T., Brantly, M., Garver, R.I., Hofker, M., Courtney, M., Crystal, R.G. Am. J. Hum. Genet. (1988)