Publications:

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

Research And Practice In Thrombosis And Haemostasis

Manderstedt, Eric E; Nilsson, Rosanna R; Ljung, Rolf R; Lind-Halldén, Christina C; Astermark, Jan J; Halldén, Christer C

Publication Date: 2020-10

Variant appearance in text: F8: 5393C>T

PubMed Link: 33134778

Variant Present in the following documents:

• RTH2-4-1121.pdf
• RTH2-4-1121-s001.pdf

View BVdb publication page

Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening.

Plos One

Manderstedt, Eric E; Nilsson, Rosanna R; Lind-Halldén, Christina C; Ljung, Rolf R; Astermark, Jan J; Halldén, Christer C

Publication Date: 2019

Variant appearance in text: F8: 5393C>T; Ala1798Val

PubMed Link: 31026269

Variant Present in the following documents:

• Main text
• pone.0216179.pdf
• pone.0216179.s001.xlsx, sheet 1

View BVdb publication page