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Osteogenesis Imperfecta (OI), also known as Brittle Bone Disease, is a hereditary disease and is characterised by extremely fragile bones and teeth.
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Specifiche
| Razza | |
|---|---|
| Gene | |
| Organo | |
| Campione | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Tipo di Ereditarietà | Autosomal Recessive |
| Cromosoma | 21 |
| Tipo di Ereditarietà | OI |
| Anno di pubblicazione |
Informazioni generali
Osteogenesis Imperfecta (OI), also known as Brittle Bone Disease, is a hereditary disease and is characterised by extremely fragile bones and teeth. Defects in the structure of the collagen leads to Osteogenesis Imperfecta.
This variant of OI, found in the Dachshund, is caused by a recessive mutation to the gene SERPINH1.
Caratteristiche cliniche
This disease is characterised by extremely fragile bones and teeth. It is sometimes also accompanied by other complications like blue sclera, hearing loss, dwarfism and discoloured teeth.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 19629171
Omia ID: 1483