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Impact of annotation error in α-globin genes on molecular diagnosis

BACKGROUND: Recent studies on the variants in duplicated human alpha globin genes (HBA2 and HBA1) actively target the α-globin gene as molecular modulators for the treatment of β-thalassemia major. Identification of the exact position of variant in HBA1, HBA2 or its patchworks is mandatory to suppor...

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Detalles Bibliográficos
Autor principal:	Borgio, J. Francis
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2017
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5648127/ https://www.ncbi.nlm.nih.gov/pubmed/29049312 http://dx.doi.org/10.1371/journal.pone.0185270

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