Article
Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele.
Molecular and cellular biology - 1 Jan 1990
Curiel D T, Vogelmeier C, Hubbard R C, Stier L E, Crystal R G
Abstract excerpt
The Mmineral springs alpha 1-antitrypsin (alpha 1AT) allele, causing alpha 1AT deficiency and emphysema, is unique among the alpha 1AT-deficiency alleles in that it was observed in a black family, whereas most mutations causing alpha 1AT deficiency are confined to Caucasian populations of Europea...
Topics
- Alleles
- Base Sequence
- Cloning, Molecular
- Emphysema
- Gene Expression Regulation
- Humans
- Isoelectric Point
- Molecular Sequence Data
- Monocytes
- Pedigree
- Polymorphism, Restriction Fragment Length
- Protein Biosynthesis