“An asymptomatic macrothrombocytopenia, phenotypically similar to asymptomatic inherited macrothrombocytopenia in Cavalier King Charles Spaniels, was described in a group of Norfolk Terriers (NT) from Northern Italy, and isolated cases were also reported in Cairn Terriers (CT). […]
The β1-tubulin N-terminal amino acids form the nucleotide-binding domain and thus this mutation could affect GTP binding enough to influence platelet formation in homozygous but not in heterozygous dogs. The presence of macrothrombocytopenia only in homozygous affected dogs reveals an association between the SNP and the phenotype.”
Maria Elena Gelain, Walter Bertazzolo, Giuseppina Tutino, Elena Pogliani, Francesco Cian, Mary K. Boudreaux: A novel point mutation in the β1-tubulin gene in asymptomatic macrothrombocytopenic Norfolk and Cairn Terriers.
In: Veterinary Clinical Pathology: Volume 43, Issue 3. Pages: 305 – 472. September 2014.
https://doi.org/10.1111/vcp.12168
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