Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach

Alpha-1-antitrypsin deficiency (AATD) is associated with a high risk for the development of early-onset emphysema and liver disease. A large majority of subjects with severe AATD carry the ZZ genotype, which can be easily detected. Another rare pathologic variant, the Mmalton allele, causes a defici...

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Bibliographic Details
Published in:	International journal of chronic obstructive pulmonary disease Vol. 11; no. 1; pp. 2535 - 2541
Main Authors:	Belmonte, Irene, Barrecheguren, Miriam, López-Martínez, Rosa M, Esquinas, Cristina, Rodríguez, Esther, Miravitlles, Marc, Rodríguez-Frias, Francisco
Format:	Journal Article
Language:	English
Published:	New Zealand Dove Medical Press Limited 01.01.2016 Dove Medical Press Ltd Dove Medical Press
Subjects:	Algorithms alpha 1-Antitrypsin - blood alpha 1-Antitrypsin - genetics alpha 1-Antitrypsin Deficiency - blood alpha 1-Antitrypsin Deficiency - diagnosis alpha 1-Antitrypsin Deficiency - enzymology alpha 1-Antitrypsin Deficiency - genetics Chronic obstructive pulmonary diseases Diagnosis Diagnòstic DNA Mutational Analysis - methods emphysema Errors congènits del metabolisme Fenotip Fluorescence Gene Frequency Genetic Markers Genetic Predisposition to Disease Genotype & phenotype genotyping Humans Inborn errors of metabolism Malalties pulmonars obstructives cròniques Medical laboratories Mutation Original Research Phenotype phenotyping Predictive Value of Tests rare variant Real-Time Polymerase Chain Reaction Reproducibility of Results Retrospective Studies Serum serum levels Spain Sèrum Spain serum levels phenotyping rare variant genotyping emphysema
ISSN:	1178-2005, 1176-9106, 1178-2005
Online Access:	Get full text
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