Genetic testing in alpha-1 antitrypsin deficiency – to sequence or not

Ken L. Wan, Paul Froomes, Laura J. Mazurkijevic, Tamaryn Knezovich, Kyle Dennis, Essra Bartlett, Nicole L.N. Chia, Mark G. Williams, Peter J. Taylor,Zhong X. Lu,Nilika Wijeratne, Alan McNeil,Chiyan Lau, Abhijit R. Kulkarni, Kym D. Mina

Pathology（2023）

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摘要

Background: A 57-year-old woman with mildly deranged liver function tests was found to have a reduced serum alpha-1-antitrypsin (A1AT) concentration 0.4g/L (RI: 1.1-2.3). She had no respiratory symptoms.

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genetic testing,deficiency

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