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Familial alpha-1-antitrypsin dificiency with Pi-Z and a new Pi-Gcler variant.

Authors: M P, Plazonnet; J, Constans; G, Misson; C, Gentou;

Familial alpha-1-antitrypsin dificiency with Pi-Z and a new Pi-Gcler variant.

Abstract

A case of familial deficiency in alpha-1-antitrypsin connected with Pi-0Z gene led to the finding of a new Gcler variant partly deficient, the electrofocusing pattern of which, located between that of G and I variants, was modified after neuraminidase digestion. A study of three generations shows that Gcler variant is transmitter according to an autosomally codominant mode. Moreover serum trypsin inhibitory capacity and concentration of ten proteins have been measured in this family. Except the known relation between serum alpha-1-antitrypsin level and trypsin inhibitory, capacity, only serum IgA showed a significant correlation with serum alpha-1-antitrypsin in the deficient group with Pi-Z allele.

Keywords

Phenotype, alpha 1-Antitrypsin Deficiency, Humans, Blood Proteins, Immunoelectrophoresis

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
3
Average
Average
Average
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