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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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Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Generell informasjon
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.
Kliniske egenskaper
Affected puppies are born with damaged, dysfunctional kidneys and die within days from kidney or respiratory failure.
Tilleggsinformasjon
Referanser
Pubmed ID: 30235266
Omia ID: 2173