Article
Characterization of a human alpha 1-antitrypsin null allele involving aberrant mRNA splicing.
Human molecular genetics - 1 Jul 1993
Laubach V E, Ryan W J, Brantly M
Abstract excerpt
alpha 1-Antitrypsin (alpha 1AT) is a major protease inhibitor present in high concentrations in the plasma. Inheritance of alpha 1AT deficiency or null alleles (alleles associated with no detectable serum alpha 1AT) is associated with an increased risk for emphysema. In contrast to beta zero-thalassemia variants in which RNA splicing and promoter mutations constitute more than 40% of beta zero-thalassemia...
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