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Ehlers-Danlos syndrome (EDS) Type I is most likely caused by a mutation in the COL5A1 gene.
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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
Ehlers-Danlos syndrome (EDS) Type I is most likely caused by a mutation in the COL5A1 gene. This results in defective collagen synthesis or impaired assembly of the collagen structure. Collagen is the main component of connective tissue, and it is the most abundant protein in mammals. It is mostly found in tendons, ligaments, and skin, but also in bones, blood vessels and many other tissues.
Caratteristiche cliniche
I gatti con sindrome di Ehlers-Danlos (EDS) di tipo 1 mostrano una pelle flaccida ed elastica, molto fragile, scarsa guarigione delle ferite e cicatrici anomale. I sintomi si svilupperanno in giovane età. Entro poche ore fino a un massimo di diverse settimane dopo la nascita, le caratteristiche che accompagnano questi effetti genetici diventeranno visibili.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 30246406
Omia ID: 2165