Article
Molecular confirmation of alpha 1-antitrypsin genotypes in newborn dried blood specimens.
Biochemical medicine and metabolic biology - 1 Oct 1993
Spence W C, Morris J E, Pass K, Murphy P D
Abstract excerpt
Deficiency of alpha 1-antitrypsin (alpha 1AT), a common hereditary disorder of Caucasians, is associated with an increased risk for early-onset chronic obstructive pulmonary disease and childhood liver dysfunction. The two most common deficiency variants, PiS and PiS, are both single base-pair su...
Topics
- Amino Acid Sequence
- Electrophoresis, Agar Gel
- Genotype
- Humans
- Infant, Newborn
- Isoelectric Focusing
- Molecular Sequence Data
- Mutagenesis
- Mutation
- Pancreatic Elastase
- Point Mutation
- Polymerase Chain Reaction
- Spectrometry, Fluorescence
- alpha 1-Antitrypsin