Article
A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure.
The Journal of clinical investigation - 1 Dec 1990
Frazier G C, Siewertsen M A, Hofker M H, Brubacher M G, Cox D W
Abstract excerpt
The most common deficiency allele of the plasma protease inhibitor alpha 1-antitrypsin (alpha 1AT) is PI*Z. Some rare deficiency alleles of alpha 1AT produce low but detectable amounts of plasma alpha 1AT (1-20% of normal), which can be differentiated by isoelectric focusing. Others, designated null (QO) alleles, produce no alpha 1AT detectable by routine quantitative methods. We have previously described a...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Deoxyribonucleases, Type II Site-Specific
- Genes
- Haplotypes
- Humans
- Molecular Sequence Data
- Oligonucleotide Probes
- Polymerase Chain Reaction
- Protein Conformation