Article
Polymerase chain reaction for detection of the alpha-1-antitrypsin Z allele in chronic liver disease.
Journal of hepatology - 1 Mar 1990
Brind A M, McIntosh I, Brock D J, James O F, Bassendine M F
Abstract excerpt
The genetic locus for alpha-1-antitrypsin (alpha-AT) is highly polymorphic, but all protein variants are encoded by a single locus on chromosome 14. Periportal hepatocyte granules are described in association with chronic liver disease and the Z variant. A Z-specific point mutation in exon V of the alpha-AT gene, converting amino acid 342 from Glu to Lys, is thought to be responsible for the hepatocyte...
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