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

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

Pulmonology（2022）

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摘要

AATD diagnosis would improve if both the COPD and the asthmatic patients were included to screening programs. The prevalence of PI*ZZ genotype in La Palma (1/2,162) was relatively high within Spain (average 1/3,344).

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关键词

Alpha-1 antitrypsin deficiency,Bronchial asthma,Chronic obstructive pulmonary disease,SERPINA1 gene,Screening,Underdiagnosis

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