Frequency of alleles and genotypes associated with alpha-1 antitrypsin deficiency in clinical and general populations: Revelations about underdiagnosis
Author:
Funder
Grifols SA
Publisher
Elsevier BV
Subject
Pulmonary and Respiratory Medicine
Reference39 articles.
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2. Alpha1-antitrypsin deficiency;Strnad;N Engl J Med,2020
3. Alpha-1-antitrypsin (SERPINA1) mutation spectrum: three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal;Silva;Respir Med,2016
4. Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having alpha 1 antitrypsin deficiency;Kueppers;BMC Med Genet,2019
5. Genetic variants of α1-antitrypsin;Salahuddin;Curr Protein Pept Sci,2010
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