The detail information of Elliptocytosis
OMIA Basic Information
Possible human homologues (MIM numbers): -
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: yes
Year key mutation first reported: 2009
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
There are associated breeds.
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| SPTB | spectrin, beta, erythrocytic | Canis lupus familiaris | Chr8 : 39523986 - 39377314 | Homologene, Ensembl, NCBI gene |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2009 |
DiTerlizzi,R.,Gallagher,PG.,Mohandas,N.,Steiner,LA.,Dolce,KS.,Guo,X.,Wilkerson,MJ.,Stockham,SL.: :
Canine elliptocytosis due to a mutant beta-spectrin. Vet Clin Pathol 38:52-8, 2009. Pubmed reference: 19228356 . DOI: 10.1111/j.1939-165X.2008.00092.x . |
| 1999 |
Mills,J.N.,Marsden,C.A.: :
Presumed hereditary elliptocytosis in a dog Australian Veterinary Journal 77:651-652, 1999. Pubmed reference: 10590790 . |