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Methods in Molecular Biology (Clifton, N.J.)|July 29, 2017
Laboratory Diagnosis by GenotypingIrene Belmonte, Luciana Montoto, Francisco Rodríguez-Frías
Clinical Chemistry and Laboratory Medicine|January 21, 2017
Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samplesIrene Belmonte, Miriam Barrecheguren, Cristina Esquinas, et al.
Respiratory Research|August 15, 2018
Real world evaluation of a novel lateral flow assay (AlphaKit® QuickScreen) for the detection of alpha-1-antitrypsin deficiencyTimm Greulich, Francisco Rodríguez-Frias, Irene Belmonte, et al.
Chronic Obstructive Pulmonary Diseases (Miami, Fla.)|November 5, 2020
The Clinical Utility of Determining the Allelic Background of Mutations Causing Alpha-1 Antitrypsin Deficiency: The Case with the Null Variant Q0(Mattawa)/Q0(Ourém)Judith Bellemare, Nathalie Gaudreault, Kim Valette, et al.
International Journal of Chronic Obstructive Pulmonary Disease|November 24, 2016
Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approachIrene Belmonte, Miriam Barrecheguren, Rosa M López-Martínez, et al.
Clinical Chemistry and Laboratory Medicine|July 9, 2015
Rapid detection of Mmalton α1-antitrypsin deficiency allele by real-time PCR and melting curves in whole blood, serum and dried blood spot samplesIrene Belmonte, Luciana Montoto, Marc Miravitlles, et al.
Respiratory Research|December 10, 2022
New variants of alpha-1-antitrypsin: structural simulations and clinical expressionAngel Gonzalez, Irene Belmonte, Alexa Nuñez, et al.
International Journal of Chronic Obstructive Pulmonary Disease|December 15, 2017
Gene and miRNA expression profiles in PBMCs from patients with severe and mild emphysema and PiZZ alpha1-antitrypsin deficiencyCristina Esquinas, Sabina Janciauskiene, Ricardo Gonzalo, et al.
International Journal of Chronic Obstructive Pulmonary Disease|October 29, 2020
Trends in Diagnosis of Alpha-1 Antitrypsin Deficiency Between 2015 and 2019 in a Reference LaboratoryIrene Belmonte, Alexa Nuñez, Miriam Barrecheguren, et al.
World Journal of Gastroenterology|February 20, 2018
Analysis of hepatitis B virus preS1 variability and prevalence of the rs2296651 polymorphism in a Spanish populationRosario Casillas, David Tabernero, Josep Gregori, et al.
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