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Hereditary nasal parakeratosis (HNPK) is a hereditary monogenic 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 monogenic autosomal recessive skin disorder. The disease causes crusts and fissures on the nasal planum of Labrador Retrievers. The disorder is caused by a mutation in the SUV39H2 gene. The mutation involves by the epigenetic regulation of keratinocyte differentiation, which ensures stratification and tight sealing of the mammalian epidermis.
Caractéristiques cliniques
Les symptômes cliniques sont limités aux épidermes du planum nasal. Comme il n’est actuellement pas clair pourquoi un défaut dans l’enzyme modificateur des histones conduit au phénotype spécifique du tissu.
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