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Relative and Absolute Quantification of Aberrant and Normal Splice Variants in HBB(IVSI−110 (G > A)) β-Thalassemia

The β-thalassemias are an increasing challenge to health systems worldwide, caused by absent or reduced β-globin (HBB) production. Of particular frequency in many Western countries is HBB(IVSI−110(G > A)) β-thalassemia (HGVS name: HBB:c.93-21G > A). Its underlying mutation creates an abnormal...

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Detalles Bibliográficos
Autores principales:	Patsali, Petros, Papasavva, Panayiota, Christou, Soteroulla, Sitarou, Maria, Antoniou, Michael N., Lederer, Carsten W., Kleanthous, Marina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7555009/ https://www.ncbi.nlm.nih.gov/pubmed/32933098 http://dx.doi.org/10.3390/ijms21186671

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