Article
Molecular basis, clinical consequences and diagnosis of alpha-1 antitrypsin deficiency.
Annals of clinical biochemistry - 1 May 1997
Norman M R, Mowat A P, Hutchison D C
Abstract excerpt
(1) Deficiency of alpha AT is one of the most common hereditary diseases affecting Caucasians in Europe. The alpha 1AT protein is extremely pleomorphic, and around 90 variants due to mutations have been recognized. The prime functions of alpha 1AT is to inhibit neutrophil elastase, and a proportion of individuals who are deficient in alpha 1AT develop emphysema. The most common deficiency variant (Z) is also...
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