Diagnosis & Disease Information

DNA genetics

Study Identifies Novel Genetic Mutations Contributing to the Development of AATD

Five rare genetic variants of the SERPINA1 gene, including 4 previously unknown mutations, might be associated with the development of alpha-1 antitrypsin deficiency (AATD), according to a new study published in Respiratory Research. For the purpose of this study, the researchers recruited 6 patients with moderate to severe AATD from the outpatient clinic of the…

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