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Efficient Detection of Mediterranean β-Thalassemia Mutations by Multiplex Single-Nucleotide Primer Extension

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 Mediterran...

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Detalles Bibliográficos
Autores principales: Atanasovska, Biljana, Bozhinovski, Georgi, Plaseska-Karanfilska, Dijana, Chakalova, Lyubomira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3482202/
https://www.ncbi.nlm.nih.gov/pubmed/23110203
http://dx.doi.org/10.1371/journal.pone.0048167