PiEcincinnati: A new alpha1-antitrypsin allele in three negro families
β Scribed by G. Hug; Gail Chuck; T.M. Slemmer; Magne K. Fagerhol
- Publisher
- Springer
- Year
- 1980
- Tongue
- English
- Weight
- 408 KB
- Volume
- 54
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
In a genetic investigation of the population in Hessen, Germany, we found a family with a new, rare allele in the Pi system (alpha 1-antitrypsin). According to electrophoretic analysis and isoelectric focusing patterns, it is designated PiT. A pedigree study suggests autosomal codominant inheritance
Alpha-1 -antitrypsin (A1 AT) deficiency is an autosomal hereditary disorder with a reduction in serum A1 AT levels. In a large family, we used a polymerase chain reaction (PCR)- mediated, site-directed mutagenesis assay to detect the two most common AlAT deficient variants, Z and S. By coamplificati
The detection of PI Scologne, a rare variant in the alpha-1-antitrypsin system, by means of isoelectric focusing is described.