alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene.

doi:10.1038/304230a0

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Article

alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene.

Nature - 1 Jan 2000

Kidd V J, Wallace R B, Itakura K, Woo S L

Abstract excerpt

A deficiency in the plasma protease inhibitor alpha 1-antitrypsin can cause chronic obstructive emphysema or infantile liver cirrhosis. This deficiency results from a single amino acid substitution created by a G to A transition in the gene for alpha 1-antitrypsin. Chemically synthesized specific...

Topics

Base Sequence
DNA Restriction Enzymes
Genes
Genotype
Humans
Liver
Mutation
Nucleic Acid Hybridization
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency

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