DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z.

doi:10.1038/316079a0

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Article

DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z.

Nature - 1 Jan 2000

Cox D W, Woo S L, Mansfield T

Abstract excerpt

The alpha 1-protease inhibitor, or alpha-antitrypsin (AAT), a major plasma inhibitor of leukocyte elastase and bacterial proteases, is encoded at the PI locus on chromosome 14 (14q24.3-q32.1). A deficiency of AAT in individuals homozygous for the PI Z allele occurs in about 1 in 2,000-8,000 cauca...

Topics

Alleles
DNA Restriction Enzymes
Humans
Polymorphism, Genetic
alpha 1-Antitrypsin Deficiency

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