Article
Heterozygous α1-antitrypsin Z allele mutation in presumed healthy donor livers used for transplantation.
European journal of gastroenterology & hepatology - 1 Nov 2013
Roelandt Philip, Dobbels Pieter, Komuta Mina, Corveleyn Anniek, Emonds Marie-Paule, Roskams Tania, Aerts Raymond, Monbaliu Diethard, Libbrecht Louis, Laleman Wim, Verslype Chris, Van Steenbergen Werner, van der Merwe Schalk, Pirenne Jacques, Nevens Frederik, Cassiman David
Abstract excerpt
OBJECTIVES: The Z allele (Glu342Lys) in α1-antitrypsin (AAT) deficiency is a combined deficiency and dysfunctional allele. Carrying one Z allele induces a risk of a more aggressive evolution in patients with a chronic liver disease. As most of the carriers of Z allele do not have overt liver dise...
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