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Detection of mosaics in hemophilia A by deep Ion Torrent sequencing and droplet digital PCR

BACKGROUND: The occurrence of mosaicism in hemophilia A (HA) has been investigated in several studies using different detection methods. OBJECTIVES: To characterize and compare the ability of AmpliSeq/Ion Torrent sequencing and droplet digital polymerase chain reaction (ddPCR) for mosaic detection i...

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Detalles Bibliográficos
Autores principales:	Manderstedt, Eric, Nilsson, Rosanna, Ljung, Rolf, Lind‐Halldén, Christina, Astermark, Jan, Halldén, Christer
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles ‐ Hemostasis
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7590296/ https://www.ncbi.nlm.nih.gov/pubmed/33134778 http://dx.doi.org/10.1002/rth2.12425

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