Tag: liver

  • Z-Mutations and Liver Disease

    Z-Mutations and Liver Disease

    Alpha-1 antitrypsin deficiency (AATD) is an important and under-recognized genetic cause of liver disease. The most common mutation associated with liver disease results from a single change within the DNA sequence known as the Z mutation – this mutation leads to abnormal processing and significant accumulation of the AAT protein within liver cells, which is…