Article
Identification of a new defective SERPINA1 allele (PI*Zla palma) encoding an alpha-1-antitrypsin with altered glycosylation pattern.
Respiratory medicine - 1 Oct 2017
Hernández-Pérez José M, Ramos-Díaz Ruth, Pérez José A
Abstract excerpt
BACKGROUND: Alpha-1-antitrypsin (AAT) deficiency is a genetic condition that arises from mutations in the SERPINA1 gene and predisposes to develop pulmonary emphysema and, less frequently, liver disease. Occasionally, new defective SERPINA1 alleles are detected as an outcome of targeted-screening programs or case-findings. METHODS: This study began with a female patient showing bronchial hyperreactivity. Serum...
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