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Macrothrombocytopenia (Cairn/Norfolk Terrier Type) Overview

Macrothrombocytopenia (Cairn/Norfolk Terrier Type)
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Category: Haemolymphatic - Associated with the blood and lymph

Gene: Tubulin beta 1 class VI (TUBB1) on Chromosome 24

Variant Detected: Base Substitution c.5G>A p.Arg2His

Severity: Scale 1 has a very low degree of severity. It is a trait and so is tested based on preference, not usually for health concerns.

Mode of Inheritance: Autosomal Recessive

Research Citation(s): Gelain, ME. A novel point mutation in the ?1?tubulin gene in asymptomatic macrothrombocytopenic Norfolk and Cairn Terriers (2014) Vet Clin Path 43(3);317-321.

Associated Breed(s): Cairn Terrier,  Norfolk Terrier ,  Mixed Breed,  Norwich Terrier,