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Breakpoint characterization of a rare alpha(0)‐thalassemia deletion using targeted locus amplification on genomic DNA

INTRODUCTION: The high‐sequence homology of the α‐globin‐gene cluster is responsible for microhomology‐mediated recombination events during meiosis, resulting in a high density of deletion breakpoints within a 10 kb region. Commonly used deletion detection methods, such as multiplex ligation‐depende...

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Detalles Bibliográficos
Autores principales:	Hottentot, Quint P., de Meijer, Emile, Buermans, Henk P. J., White, Stefan J., Harteveld, Cornelis L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	ORIGINAL ARTICLES
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291876/ https://www.ncbi.nlm.nih.gov/pubmed/34251753 http://dx.doi.org/10.1111/ijlh.13651

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