Christmas disease in a Hovawart family resembling human hemophilia B Leyden is caused by a single nucleotide deletion in a highly conserved transcription factor binding site of the F9 gene promoter
Bertram Brenig, Lilith Steingräber, Shuwen Shan, Fangzheng Xu, Marc Hirschfeld, Reiner Andag, Mirjam Spengeler, Elisabeth Dietschi, Reinhard H. Mischke, Tosso Leeb
The paper identifies a single nucleotide deletion in the F9 gene promoter of a Hovawart family causing hemophilia B resembling human hemophilia B Leyden, with reduced factor IX expression and altered transcription factor binding.
Haematologica · Mar 7, 2019Peer-reviewedGenetics