[Genetic analyses of alpha 1-antitrypsin deficiency].

Abstract excerpt

The deficiency of alpha 1-antitrypsin, a strong protease inhibitor, is known to cause pulmonary emphysema, neonatal hepatitis and liver cirrhosis. Among 75 variants reported so far, amino acid or DNA variations have been determined in about 30 variants. Many are caused by single base substitutions which then cause single amino acid replacements. In most of the null variants, base substitutions, base deletions or...

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