The Alpha 1 antitrypsin deficiency - etiology, symptoms in various organs, diagnosis, treatment, prognosis

• मुख्य लेखकों: Dawid Kościołek (लेखक), Michał Urbaś (लेखक), Martyna Kępczyk (लेखक), Aleksandra Kościołek (लेखक), Kaja Surowiecka (लेखक), Jakub Misiak (लेखक), Miłosz Ojdana (लेखक), Konrad Szalbot (लेखक), Mikołaj Tokarski (लेखक), Natalia Marczak (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Kazimierz Wielki University, 2024-02-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Introduction: Alpha-1 antitrypsin (AAT) is a glycoprotein produced by liver, belonging to the serine protease inhibitor family. Alpha-1 antitrypsin deficiency (AATD) is very common autosomal recessive genetic disease caused by point mutation in SERPINA1 gene. Mutations in the alpha-1 antitrypsin gen...