Optimized Droplet Digital PCR Assay on Cell-Free DNA Samples for Non-Invasive Prenatal Diagnosis: Application to Beta-Thalassemia.

BACKGROUND: Thalassemias are inherited blood disorders and by far one of the most common monogenic diseases globally. Beta-thalassemia has a particularly high prevalence in Cyprus, with the IVSI-110 G.A (HBB: c.93-21G.A) pathogenic variation representing almost 79% of the total carriers. The discove...

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Publicado en:	Clinical Chemistry Vol. 68; no. 8; pp. 1053 - 1064
Autores principales:	Constantinou, Constantina G., Karitzi, Eleni, Byrou, Stefania, Stephanou, Coralea, Michailidou, Kyriaki, Makariou, Christiana, Hadjilambi, Georgia, Christofides, Agathoklis, Kleanthous, Marina, Papasavva, Thessalia
Formato:	Journal Article
Publicado:	Oxford University Press / USA Aug2022
Acceso en línea:	Ver este registro en EBSCOhost