Abstract
Alpha-1 antitrypsin (AAT) genotyping is useful to confirm the clinical diagnosis of AAT deficiency and determine the specific allelic variant. Genotyping is the reference standard procedure for identifying rare allelic variants and characterizing new variants. It is also useful when there is a discrepancy between the patients’ AAT levels and their phenotypes. AAT genotype is determined by an allele-specific genotyping assay for the S, Z, and Mmalton variants and by exome sequencing.
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Acknowledgments
This study was supported in part by a grant from Fundación Catalana de Pneumología (FUCAP 2015) and by funding from Grifols to the Catalan Center for Research in Alpha-1 antitrypsin deficiency of the Vall d’Hebron Research Institute in Vall d’Hebron University Hospital, Barcelona, Spain.
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Belmonte, I., Montoto, L., Rodríguez-Frías, F. (2017). Laboratory Diagnosis by Genotyping. In: Borel, F., Mueller, C. (eds) Alpha-1 Antitrypsin Deficiency . Methods in Molecular Biology, vol 1639. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-7163-3_5
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DOI: https://doi.org/10.1007/978-1-4939-7163-3_5
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