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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:
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