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Article

Genetic variation patterns of β-thalassemia in Western Andalusia (Spain) reveal a structure of specific mutations within the Iberian Peninsula.

Annals of human biology - 1 Aug 2021

Sánchez-Martínez Luis J, Hernández Candela L, Rodríguez Juan N, Dugoujon Jean M, Novelletto Andrea, Ropero Paloma, Pereira Luisa, Calderón Rosario

Abstract excerpt

BACKGROUND: Analyses of the genomic variation in the western Mediterranean population are being used to reveal its evolutionary history and to understand the molecular basis of particular diseases. AIM: To observe the β-thalassemia mutational spectrum in western Andalusia, Spain, in the context of the Mediterranean. In addition, associations between disease and neutral gene variants within the β-globin gene (HBB)...

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PMID: 34727790
DOI: 10.1080/03014460.2021.2000641

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