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Oculocutaneous Albinism is a disorder caused by a lack of pigment in the skin, hair and eyes, resulting in a white coat colour and pale eyes, and which can also cause sensitivity to light.
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Specifiche
| Razza | |
|---|---|
| Gene | |
| Cromosoma | 4 |
| Mutation | c.1478G>A |
| Tipo di Ereditarietà | Autosomico Recessivo |
| Organo | |
| Campione | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Also known as | WDP |
Informazioni generali
Oculocutaneous Albinism is a disorder caused by a lack of pigment in the skin, hair and eyes, resulting in a white coat colour and pale eyes, and which can also cause sensitivity to light. This particular variant of the disease, Oculocutaneous Albinism, is caused by a recessive mutation to the gene SLC45A2. It is found in the Lhasa Apso, Pekingese and German Spitz (Pomeranian) breeds, as well as in certain mixed-breed dogs. Similar variants of Type IV albinism are found in the Doberman and the Bullmastiff.
Caratteristiche cliniche
I cani affetti mostrano le classiche caratteristiche dell'albinismo, con pelo bianco, pelle rosa chiaro e pelo chiaro.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 25790827
Year published: 2015
Omia ID: 1821
Omia variant ID: 92