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Article

A quantitative assay to detect α-thalassemia deletions and triplications using multiplex nested real-time quantitative polymerase chain reaction.

Analytical biochemistry - 15 Aug 2012

Zhou Wan-Jun, Liu Wei-Yu, Liu Dun, Jiang Jian-Hui, Zhou Dian-Min, Zhong Ze-Yan, Xu Xiang-Min

Abstract excerpt

Increasing evidence indicates that copy number variants (CNVs) have great relevance to common human diseases. In α-thalassemia, clinical phenotypes are related to genotypes, specifically copy number changes in the human α-globin gene cluster. Assays are available for high-throughput screening of unknown CNVs genome-wide and also for targeted CNV genotyping at loci associated with genetic disorders. Here we...

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PMID: 22617799
DOI: 10.1016/j.ab.2012.05.009

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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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