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In the Norwich Terrier, a recessive mutation to the gene INPP5E causes a severe kidney disorder known as diffuse cystic renal dysplasia with hepatic fibrosis.
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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Informazioni generali
In the Norwich Terrier, a recessive mutation to the gene INPP5E causes a severe kidney disorder known as diffuse cystic renal dysplasia with hepatic fibrosis. The disease is lethal to affected puppies.
Caratteristiche cliniche
Affected puppies are born with damaged, dysfunctional kidneys and die within days from kidney or respiratory failure.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 30235266
Omia ID: 2173