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Article

Droplet digital PCR and mile-post analysis for the detection of F8 int1h inversions.

Journal of thrombosis and haemostasis : JTH - 1 Mar 2021

Manderstedt Eric, Lind-Halldén Christina, Ljung Rolf, Astermark Jan, Halldén Christer

Abstract excerpt

BACKGROUND: F8 int1h inversions (Inv1) are detected in 1%-2% of severe hemophilia A (HA) patients. Long-range polymerase chain reaction (PCR) and inverse-shifting PCR have been used to diagnose these inversions. OBJECTIVES: To design and validate a sensitive and robust assay for detection of F8 Inv1 inversions. METHODS: Archival DNA samples were investigated using mile-post assays and droplet digital PCR....

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PMID: 33345381
DOI: 10.1111/jth.15219

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