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Article

Real-time PCR detection of PIS and PIZ alleles of SERPINA1 gene using SYBR green.

Gene - 30 Aug 2024

Ramos-Díaz Ruth, Escuela-Escobar Ainhoa, Díaz-Usera Ana, Hernández Pérez José María, González-Carracedo Mario Andrés, Pérez-Pérez José Antonio

Abstract excerpt

BACKGROUND: Alpha-1 antitrypsin deficiency is an underdiagnosed genetic condition that predisposes to pulmonary complications and is mainly caused by rs28929474 (PI*Z allele) and rs17580 (PI*S allele) mutations in the SERPINA1 gene. OBJECTIVE: Development of a homogeneous genotyping test for detection of PI*S and PI*Z alleles based on the principles of allele-specific PCR and amplicon melting analysis with a...

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PMID: 38723785
DOI: 10.1016/j.gene.2024.148540

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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