Article
Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states.
Orphanet journal of rare diseases - 7 Oct 2015
Joly Philippe, Guillaud Olivier, Hervieu Valérie, Francina Alain, Mornex Jean-François, Chapuis-Cellier Colette
Abstract excerpt
BACKGROUND: Alpha 1 antitrypsin (A1AT) deficiency (A1ATD) is potentially associated with a high degree of liver and/or lung disease. Apart from the most frequent deficiency alleles, Pi S and Pi Z, some A1AT alleles of clinical significance may be easily misdiagnosed. This is typically the case of the Pi Mmalton variant which shares the same 'gain-of-function' liver toxicity than Pi Z and the same 'loss of...
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