Article
DNA polymorphisms associated with a new alpha 1-antitrypsin PIQ0 variant (PIQ0riedenburg).
Human genetics - 1 Mar 1991
Poller W, Faber J P, Weidinger S, Olek K
Abstract excerpt
A new PIQ0 variant (PIQ0riedenburg) is described; it is caused by a complete deletion of the alpha 1-antitrypsin (alpha 1 AT) gene. The deletion gives rise to four new restriction fragment length polymorphisms (RFLPs) detected with a genomic probe of the 5' region of the gene. Analysis of the RFL...
Topics
- Alleles
- Chromosome Deletion
- Exons
- Female
- Heterozygote
- Humans
- Male
- Pedigree
- Polymorphism, Restriction Fragment Length
- Restriction Mapping
- alpha 1-Antitrypsin
