Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression
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DOI: 10.1016/j.rmcr.2018.04.005
Abstract: Alpha-1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. This genetic disorder is mainly associated with development of pulmonary emphysema and/or chronic liver disease and cirrhosis. Here we report… read more here.
Keywords: null q0cairo; antitrypsin; alpha antitrypsin; antitrypsin deficiency ... See more keywords