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

• Main Authors: Friedrich Kueppers (Author), Mark D. Andrake (Author), Qifang Xu (Author), Roland L. Dunbrack (Author), Joannah Kim (Author), Christopher L. Sanders (Author)
• Format: Book
• Published: BMC, 2019-07-01T00:00:00Z.
• Subjects: article
• Online Access: 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 �...