148,83 123,- IVA esclusa

H443

Hereditary Nasal Parakeratosis (HNPK) is an inherited autosomal recessive skin disorder.

Working days 25

Specifiche

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

Informazioni generali

Hereditary Nasal Parakeratosis (HNPK) is an inherited 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.

Caratteristiche cliniche

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).

Informazioni aggiuntive

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.

Riferimenti

Pubmed ID: 24098150

Omia ID: 1373

Come funziona?

1. Seleziona il tuo/tuoi prodotto/i

Seleziona un singolo test, un pacchetto CombiBreed o crea il tuo pacchetto personalizzato

2. Raccogli il campione di DNA

Campiona il DNA come indicato nei nostri prodotti e invialo al nostro laboratorio

3. Risultati

Ci occupiamo del tuo DNA con cura e ti forniamo i risultati del test

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