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Alpha-1 Antitrypsin Deficiency, SERPINA gene variants that lead to A1AT deficiency

Alpha-1 Antitrypsin Deficiency: Genetic Raw Data, Carrier Effects, Interactions with TNF

A genetic mutation in the SERPINA1 gene causes alpha-1 antitrypsin deficiency. This increases a person’s susceptibility to COPD (chronic obstructive pulmonary disease) and, in some cases, cirrhosis of the liver. Knowing that you carry this mutation can be a great incentive to avoid smoking and to be kind to your liver.