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  • Molecular assay reagents intended to identify mutations in the serine (or cysteine) proteinase inhibitor, class A, member 1 (SERPINA1) gene, located at chromosome 14q32.1, which encodes for a protein that controls trypsin and neutrophil elastase activity. This genetic mutation has been identified in patients with alpha-1-antitypsin deficiency, associated with emphysema, neonatal hepatitis, chronic cirrhosis, and chronic obstructive pulmonary disease.
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