Article info
Diagnostics
Original article
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia
- Correspondence to Dr Pinar Bayrak-Toydemir, Molecular Genetics Department, ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA; pinar.bayrak-toydemir{at}aruplab.com
Citation
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia
Publication history
- Received June 26, 2018
- Revised August 14, 2018
- Accepted August 23, 2018
- First published September 22, 2018.
Online issue publication
November 22, 2018
Article Versions
- Previous version (22 September 2018).
- Previous version (10 October 2018).
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Copyright information
© Author(s) (or their employer(s)) 2018. No commercial re-use. See rights and permissions. Published by BMJ.