GeneticsHaematologicaPeer-reviewed
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…·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.