Prevalence and phenotype of subjects carrying rare variants in Argentina for alpha1-antitrypsin deficiency

Lorenzon, Victoria; Soledad Cruz Sáez, María; Fernández Acquier, Mariano; Rizzo, Oscar; Alejandra Pereyra, Maria; Pinchuk, Carolina; María Oyhamburu, osé; Sorroche, Patricia; Litewka, Diego

doi:10.1183/1393003.congress-2017.pa966

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Prevalence and phenotype of subjects carrying rare variants in Argentina for alpha1-antitrypsin deficiency

Published • Sep 1, 2017

Authors:

Victoria Lorenzon

María Soledad Cruz Sáez

Mariano Fernández Acquier

Abstract

Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that predisposes to COPD and liver disease. A plasma concentration <50 mg/dL is considered a relevant deficiency. It is caused by inheritance of deficiency alleles such as Z and S allele. Besides these, rare alleles causing deficiency ha...

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Allele

Genotyping

Alpha 1-antitrypsin deficiency

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