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

Hemophilia B is a classical monogenic, X-chromosomal, recessively transmitted bleeding disorder caused by genetic variants within the coagulation factor IX gene (F9). Although hemophilia B has been described in dogs, it has not yet been reported in the Hovawart breed. Here we describe the identifica...

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Detalles Bibliográficos
Autores principales: Brenig, Bertram, Steingräber, Lilith, Shan, Shuwen, Xu, Fangzheng, Hirschfeld, Marc, Andag, Reiner, Spengeler, Mirjam, Dietschi, Elisabeth, Mischke, Reinhard, Leeb, Tosso
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ferrata Storti Foundation 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821609/
https://www.ncbi.nlm.nih.gov/pubmed/30846504
http://dx.doi.org/10.3324/haematol.2018.215426

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