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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
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Materias: | |
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 |