Article
Frequency of alpha-1 antitrypsin deficiency and unexpected results in COPD patients in Turkey; rare variants are common.
Turkish journal of medical sciences - 1 Oct 2022
Çörtük Mustafa, Demirkol Barış, Arslan Melih Akay, İlhan Umut, Kalkan Yunus Emre, Turan Demet, Gül Şule, Çınarka Halit, Baydili Kürşad Nuri, Çetinkaya Erdoğan
Abstract excerpt
BACKGROUND: Alpha-1 antitrypsin (α1-AT) is a protease inhibitor that is largely released from liver cells. It inhibits neutrophil elastase and its deficiency increases the risk of developing chronic obstructive pulmonary disease (COPD). The frequency of α1-AT deficiency has been reported with different prevalence rates in different parts of the world. The most common α1-AT variant causing α1-AT deficiency is the...
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