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

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

Abstract 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 dete...

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Bibliographic Details
Main Authors: Eric Manderstedt, Rosanna Nilsson, Rolf Ljung, Christina Lind‐Halldén, Jan Astermark, Christer Halldén
Format: Article
Language:English
Published: Wiley 2020-10-01
Series:Research and Practice in Thrombosis and Haemostasis
Subjects:
factor VIII
hemophilia A
high‐throughput nucleotide sequencing
mosaicism
polymerase chain reaction
Online Access:https://doi.org/10.1002/rth2.12425

Internet

https://doi.org/10.1002/rth2.12425

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