€57,48 €47,50 IVA esclusa
Acatalasemia is a genetic deficiency of catalase activity in erythrocytes.
Working days 10
Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Informazioni generali
Acatalasemia is a genetic deficiency of catalase activity in erythrocytes. The deficiency is most likely caused by a single point mutation in the catalase gene (CAT). The mutated variant is more susceptible to proteolytic degradation than normal catalase.
Caratteristiche cliniche
A clinical feature is the development of gangrene of the oral cavity, which could lead to the removal of teeth at the age of eighteen months, and therefore be a manifestation of acatalasemia.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 11137458
Omia ID: 1138
Prodotti correlati
-
- Portuguese Water Dog
- GLB1
- Sistema nervoso
-
- Standard Schnauzer
- TSEN54
- Sistema nervoso
-
- Border Collie
- ABCB1
- Sistema nervoso
-
- Yorkshire Terrier
- L2HGDH
- Sistema nervoso
