Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal
Fourteen rare alleles associated to AATD were found in the Portuguese population.
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MMalton and MPalermo alleles have arisen by the recurrence of p.Phe52del mutation.
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Five pathogenic mutations segregate at low-frequencies among Europeans.
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AATD causing mutations tend to cluster in SERPINA1 shutter and gate domains.
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