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Article

A minimal set of SNPs for the noninvasive prenatal diagnosis of β-thalassaemia.

Annals of human genetics - 1 Mar 2013

Papasavva Thessalia E, Lederer Carsten W, Traeger-Synodinos Jan, Mavrou Ariadne, Kanavakis Emmanuel, Ioannou Christiana, Makariou Christiana, Kleanthous Marina

Abstract excerpt

β-thalassaemia is one of the commonest autosomal recessive single-gene disorders worldwide. Prenatal tests use invasive methods, posing a risk for the pregnancy itself. Development of a noninvasive prenatal diagnostic method is, therefore, of paramount importance. The aim of the present study is to identify high-heterozygote informative single-nucleotide polymorphisms (SNPs), suitable for the development of...

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Identifiers

PMID: 23362932
DOI: 10.1111/ahg.12004

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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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