Study finds mutations that could contribute to increased liver disease in patient populations


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 the primary cell type responsible for producing AAT.

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