Ontology highlight
ABSTRACT:
SUBMITTER: Zhumagaliyeva A
PROVIDER: S-EPMC5655868 | biostudies-other | 2017
REPOSITORIES: biostudies-other
Zhumagaliyeva Ardak A Ottaviani Stefania S Greulich Timm T Gorrini Marina M Vogelmeier Claus C Karazhanova Ludmila L Nurgazina Gulmira G DeSilvestri Annalisa A Kotke Victor V Barzon Valentina V Zorzetto Michele M Corsico Angelo A Ferrarotti Ilaria I
Multidisciplinary respiratory medicine 20171025
<h4>Background</h4>Alpha-1-antitrypsin deficiency (AATD) is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The aim of this study was to screen for AATD in Kazakh patients with COPD using dried blood spot specimens.<h4>Methods</h4>The alpha1-antitrypsin (AAT) concentration was determined by nephelometry, PCR was used to detect PiS and PiZ alleles; and isoelectric focusing was used to confirm questionable genotype results and detect rare AAT variants.<h ...[more]