Elliptocytosis

Gene: SPTB

Transmission: Autosomal

Mutation: Substitution, SPTB gene; c.6119 C>T, p.(T2020M)

Medical system: Blood

Breeds: German Shepherd, Golden Retriever

References:

OMIA link: [1318-9615]

Di Terlizzi R, Gallagher PG, Mohandas N, et al. (2009) Canine elliptocytosis due to a mutant beta-spectrin. Vet Clin Pathol 38:52-8.  [pubmed/19228356]