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

Relative and Absolute Quantification of Aberrant and Normal Splice Variants in <i>HBB<sup>IVSI−110 (G > A)</sup></i> 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 <i>HBB<sup>IVSI−110(G > A)</sup></i> β-thalassemia (HGVS name: HBB:c.93-21G > A). Its...

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Bibliographic Details
Main Authors: Petros Patsali, Panayiota Papasavva, Soteroulla Christou, Maria Sitarou, Michael N. Antoniou, Carsten W. Lederer, Marina Kleanthous
Format: Article
Language:English
Published: MDPI AG 2020-09-01
Series:International Journal of Molecular Sciences
Subjects:
β-thalassemia
splice defect
duplex quantitative PCR
absolute quantification
transcript variants
splicing
Online Access:https://www.mdpi.com/1422-0067/21/18/6671

Internet

https://www.mdpi.com/1422-0067/21/18/6671

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