Variants of and the increasing complexity of testing for alpha-1 antitrypsin deficiency

• المؤلف الرئيسي: Kimberly E. Foil (مؤلف)
• التنسيق: كتاب
• منشور في: SAGE Publishing, 2021-06-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

Alpha-1 antitrypsin deficiency (AATD) is caused by mutations in the SERPINA1 gene, which encodes the alpha-1 antitrypsin (AAT) protein. Currently, over 200 SERPINA1 variants have been identified, many of which cause the quantitative and/or qualitative changes in AAT responsible for AATD-associated l...