Characterization of a human alpha 1-antitrypsin null allele involving aberrant mRNA splicing.

doi:10.1093/hmg/2.7.1001

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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-thal...

Topics

3T3 Cells
Alleles
Animals
Base Sequence
DNA
DNA Mutational Analysis
Humans
Male
Mice
Middle Aged
Molecular Sequence Data
Phenotype
Point Mutation
RNA Splicing
RNA, Messenger
Transfection
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency

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