€148,83 €123,- hors TVA
Hereditary Nasal Parakeratosis (HNPK) is a hereditary autosomal recessive skin disorder.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 2 |
| Mutation | c.972T>G |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | HNPK |
Informations générales
Hereditary Nasal Parakeratosis (HNPK) is a hereditary autosomal recessive skin disorder. The disorder causes crusts and fissures on the nasul planum. A missense mutation in SUV39H2 is most likely the cause for HNPK. The SUV39H2 enzyme is involved in histone methylation and epigenetic silencing.
Caractéristiques cliniques
Clinical signs become generally apparent at 6-24 months of age and range from mild (dorsal nasal planum hyperkeratosis) to severe lesions (fissures and erosions).
Additional Information
This test is performed by an external laboratory. CombiBreed takes care of the mediation between you as a customer and the external laboratory. In this case, CombiBreed cannot be held liable for the behaviour of the client and/or contractor.
Références
Pubmed ID: 24098150
Year published: 2013
Omia ID: 1373
Omia variant ID: 86