A novel alpha1-antitrypsin null variant (PiQ0(Milano))

Alpha1-antitrypsin deficiency is an autosomal recessive disease characterized by reduced serum levels of alpha1-antitrypsin (AAT) due to mutations in the SERPINA1 gene causing early onset pulmonary emphysema and, occasionally, chronic liver disease. We report an incidental finding of a novel null AA...

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Hlavní autoři: Rametta, Raffaela, Nebbia, Gabriella, Dongiovanni, Paola, Farallo, Marcello, Fargion, Silvia, Valenti, Luca
Médium: Artigo
Jazyk:Inglês
Vydáno: Baishideng Publishing Group Co., Limited 2013
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3767846/
https://ncbi.nlm.nih.gov/pubmed/24023986
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4254/wjh.v5.i8.458
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