Article
NullCanada: A novel α1-antitrypsin allele with in cis variants Glu366Lys and Ile100Asn.
Clinical biochemistry - 1 May 2020
Chen Sharon, DeMarco Mari L, Estey Mathew P, Kyle Barry, Parker Michelle L, Agbor Terence A, Kawada Patricia, Speevak Marsha, Nelson Tanya N, Mattman Andre
Abstract excerpt
BACKGROUND: α1-Antitrypsin (A1AT) deficiency predisposes patients to pulmonary disease due to inadequate protection against human neutrophil elastase released during inflammatory responses. A1AT deficiency is caused by homozygosity or compound heterozygosity for A1AT variants; individuals with A1AT deficiency most commonly have at least one Z variant allele (c.1096G > A (Glu366Lys)). Null variants that result in...
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