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Characterization of Deletions of the HBA and HBB Loci by Array Comparative Genomic Hybridization

Thalassemia is among the most common genetic diseases worldwide. α-Thalassemia is usually caused by deletion of one or more of the duplicated HBA genes on chromosome 16. In contrast, most β-thalassemia results from point mutations that decrease or eliminate expression of the HBB gene on chromosome 1...

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Publicat a:J Mol Diagn
Autors principals: Sabath, Daniel E., Bender, Michael A., Sankaran, Vijay G., Vamos, Esther, Kentsis, Alex, Yi, Hye-Son, Greisman, Harvey A.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Investigative Pathology 2016
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4715224/
https://ncbi.nlm.nih.gov/pubmed/26612711
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2015.07.011
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