Functional assays demonstrate novel SERPINA1 mutations associated with alpha-1 antitrypsin deficiency, suggesting improved diagnostic capabilities.
Functional assays and protein structural information are useful tools in the characterization of novel variants of the SERPINA1 gene. The newly characterized mutations expand the number of SERPINA1 variants with proven pathogenic effects, facilitating the diagnoses of future cases of AATD.
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Matamala et al. (2026) studied this question.
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