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Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphisms.

Annals of the New York Academy of Sciences - 1 Aug 2008

Papasavva Thessalia, Kalikas Ioannis, Kyrri Andreanni, Kleanthous Marina

Abstract excerpt

beta-Thalassemia is one of the most common autosomal recessive single-gene disorders in Cyprus. Development of a noninvasive prenatal diagnostic (NIPD) assay for beta-thalassemia is based mostly on the detection of paternally inherited single nucleotide polymorphisms (SNPs) using the arrayed primer extension (APEX) method. Eleven SNPs with high degree of heterozygosity in the Cypriot population were selected and...

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PMID: 18837964
DOI: 10.1196/annals.1448.029

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

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