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Article

Efficient detection of Mediterranean β-thalassemia mutations by multiplex single-nucleotide primer extension.

PloS one - 1 Jan 2012

Atanasovska Biljana, Bozhinovski Georgi, Plaseska-Karanfilska Dijana, Chakalova Lyubomira

Abstract excerpt

β-Thalassemias and abnormal hemoglobin variants are among the most common hereditary abnormalities in humans. Molecular characterization of the causative genetic variants is an essential part of the diagnostic process. In geographic areas with high hemoglobinopathy prevalence, such as the Mediterranean region, a limited number of genetic variants are responsible for the majority of hemoglobinopathy cases....

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PMID: 23110203
DOI: 10.1371/journal.pone.0048167
PMCID: PMC3482202

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