What is Pi (proteinase inhibitor) null or PiQO?: a problem highlighted by the alpha 1 antitrypsin Mheerlen mutation.

doi:10.1136/jmg.29.1.27

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Article

What is Pi (proteinase inhibitor) null or PiQO?: a problem highlighted by the alpha 1 antitrypsin Mheerlen mutation.

Journal of medical genetics - 1 Jan 1992

Kalsheker N, Hayes K, Weidinger S, Graham A

Abstract excerpt

alpha 1 antitrypsin deficiency is associated with predisposition to the development of pulmonary emphysema and childhood cirrhosis. There are two common deficiency alleles in the European population, proteinase inhibitor (Pi) Z and S. In addition, there are rare Pinull or QO variants which can be...

Topics

Alleles
Codon
Female
Humans
Male
Mutation
Pedigree
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency

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