Frequency of alleles and genotypes associated with alpha-1 antitrypsin deficiency in clinical and general populations: Revelations about underdiagnosis-Reference-Cited by-同舟云学术

Frequency of alleles and genotypes associated with alpha-1 antitrypsin deficiency in clinical and general populations: Revelations about underdiagnosis

Published:2023-05 Issue:3 Volume:29 Page:214-220
ISSN:2531-0437
Container-title:Pulmonology
language:en
Short-container-title:Pulmonology

Author:

Hernández-Pérez J.M.,Ramos-Díaz R.,Vaquerizo-Pollino C.,Pérez J.A.

Funder

Grifols SA

Publisher

Elsevier BV

Subject

Pulmonary and Respiratory Medicine

Reference39 articles.

1. Role of alpha-1 antitrypsin in human health and disease;de Serres;J Intern Med,2014

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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