Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency

• Glavni autori: Friedrich Kueppers (Autor), Mark D. Andrake (Autor), Qifang Xu (Autor), Roland L. Dunbrack (Autor), Joannah Kim (Autor), Christopher L. Sanders (Autor)
• Format: Knjiga
• Izdano: BMC, 2019-07-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

Abstract Background Alpha 1 Antitrypsin (AAT) is a key serum proteinase inhibitor encoded by SERPINA1. Sequence variants of the gene can cause Alpha 1 Antitrypsin Deficiency (AATD), a condition associated with lung and liver disease. The majority of AATD cases are caused by the 'Z' and �...