Article
Siiyama (serine 53 (TCC) to phenylalanine 53 (TTC)). A new alpha 1-antitrypsin-deficient variant with mutation on a predicted conserved residue of the serpin backbone.
The Journal of biological chemistry - 5 Jul 1991
Seyama K, Nukiwa T, Takabe K, Takahashi H, Miyake K, Kira S
Abstract excerpt
alpha 1-antitrypsin (alpha 1AT), a plasma serine protease inhibitor, increases the risk of precocious pulmonary emphysema in individuals when deficient. Although more than 25 years have passed since a deficiency in the serum level of alpha 1AT was reported, it is only recently that the consequenc...
Topics
- Adult
- Base Sequence
- Blotting, Western
- Heterozygote
- Humans
- Immunohistochemistry
- Isoelectric Focusing
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype