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

• Asıl Yazarlar: Friedrich Kueppers (Yazar), Mark D. Andrake (Yazar), Qifang Xu (Yazar), Roland L. Dunbrack (Yazar), Joannah Kim (Yazar), Christopher L. Sanders (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2019-07-01T00:00:00Z.
• Konular: article
• Online Erişim: 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 �...