Article
α1-Antitrypsin deficiency.
Nature reviews. Disease primers - 28 Jul 2016
Greene Catherine M, Marciniak Stefan J, Teckman Jeffrey, Ferrarotti Ilaria, Brantly Mark L, Lomas David A, Stoller James K, McElvaney Noel G
Abstract excerpt
α1-Antitrypsin deficiency (A1ATD) is an inherited disorder caused by mutations in SERPINA1, leading to liver and lung disease. It is not a rare disorder but frequently goes underdiagnosed or misdiagnosed as asthma, chronic obstructive pulmonary disease (COPD) or cryptogenic liver disease. The most frequent disease-associated mutations include the S allele and the Z allele of SERPINA1, which lead to the...
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