Published in
American Society of Hematology, Blood, 16(129), p. 2303-2307, 2017
DOI: 10.1182/blood-2016-09-738641
Links
- ORCID
- American Society of Hematology | PDF
- [www.ncbi.nlm.nih.gov] | PDF
- [europepmc.org] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
Tools
Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations
Journal article published in 2017 by
Alessio Branchini 
,
Mattia Ferrarese ,
Matteo Campioni,
Giancarlo Castaman,
Rosella Mari,
Francesco Bernardi,
Mirko Pinotti
,
Mattia Ferrarese ,
Matteo Campioni,
Giancarlo Castaman,
Rosella Mari,
Francesco Bernardi,
Mirko Pinotti
This paper is made freely available by the publisher.
Full text: Download
Preprint: archiving forbidden
Published version:
archiving forbidden
Data provided by 
Abstract
Key Points Only a few F9 nonsense mutations are responsive to drug-induced readthrough due to specific translation and protein structural constraints. Reinsertion of the WT residue and gain-of-function effects account for functionally relevant readthrough.