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The Importance of N186 in the Alpha-1-Antitrypsin Shutter Region Is Revealed by the Novel Bologna Deficiency Variant

Alpha-1-antitrypsin (AAT) deficiency causes pulmonary disease due to decreased levels of circulating AAT and consequently unbalanced protease activity in the lungs. Deposition of specific AAT variants, such as the common Z AAT, within hepatocytes may also result in liver disease. These deposits are...

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Detalles Bibliográficos
Autores principales:	Ronzoni, Riccardo, Ferrarotti, Ilaria, D’Acunto, Emanuela, Balderacchi, Alice M., Ottaviani, Stefania, Lomas, David A., Irving, James A., Miranda, Elena, Fra, Annamaria
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8198886/ https://www.ncbi.nlm.nih.gov/pubmed/34073489 http://dx.doi.org/10.3390/ijms22115668

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