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High Throughput Newborn Screening for Sickle Cell Disease – Application of Two-Tiered Testing with a qPCR-Based Primary screen

Background Sickle cell disease (SCD) is a group of hemoglobinopathies with a common point mutation causing the production of sickle cell hemoglobin (HbS). In high-throughput newborn screening (NBS) for SCD, a two-step procedure is suitable, in which qPCR first pre-selects relevant samples that are d...

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Detalles Bibliográficos
Autores principales:	Janda, Joachim, Hegert, Sebastian, Bzdok, Jessica, Tesorero, Rafael, Holtkamp, Ute, Burggraf, Siegfried, Schuhmann, Elfriede, Hörster, Friedrike, Hoffmann, Georg F., Janzen, Nils, Okun, Jürgen G, Becker, Marc, Durner, Jürgen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Georg Thieme Verlag 2023
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10635756/ https://www.ncbi.nlm.nih.gov/pubmed/37748509 http://dx.doi.org/10.1055/a-2153-7789

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