Identification of a novel<i>SERPINA-1</i>mutation causing alpha-1 antitrypsin deficiency in a patient with severe dyspnea

Lorenzon, Victoria; Sáez, Soledad; Pereyra, Alejandra; Oyhamburu, José; Sorroche, Patricia

doi:10.1183/13993003.congress-2016.pa882

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Identification of a novel<i>SERPINA-1</i>mutation causing alpha-1 antitrypsin deficiency in a patient with severe dyspnea

Published • Sep 1, 2016

Authors:

Victoria Lorenzon

Soledad Sáez

Alejandra Pereyra

Abstract

Alpha-1-antitrypsin deficiency (DAAT) is an autosomal codominant disorder that predisposes to chronic obstructive pulmonary disease (COPD) and liver disease.A plasma concentration below 50mg/dL is considered to represent a relevant deficiency.It is caused by inheritance of 2 severe deficiency allele...

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Medicine

Allele

Genotyping

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