Article
[Molecular diagnostics of alpha-1-antitrypsin deficiency in clinical practice].
Pneumonologia i alergologia polska - 1 Jan 2008
Struniawski Radosław, Szpechciński Adam, Chorostowska-Wynimko Joanna
Abstract excerpt
The deficiency of serine protease inhibitor, alpha-1-antitrypsin (AATD), is genetically determined defect that increases the risk of lung and liver disease development. The results of recent epidemiological studies indicate the overwhelming majority of individuals with alpha-1-antitrypsin deficiency still remain undiagnosed. The complete laboratory diagnosis of AATD is based on combination of quantitative and...
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