Comprehensive Clinical Diagnostic Pipelines Reveal New Variants in Alpha-1-Antitrypsin Deficiency.
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DOI: 10.1165/rcmb.2022-0470oc
Abstract: Alpha-1-antitrypsin deficiency (AATD) is an under-diagnosed disorder associated with mutations in the SERPINA1 gene encoding alpha-1-antitrypsin (AAT). Severe AATD can manifest as pulmonary emphysema and progressive liver disease. Besides the most common pathogenic variants S… read more here.
Keywords: comprehensive clinical; diagnostic pipelines; alpha antitrypsin; clinical diagnostic ... See more keywords