The First Homozygote Mutation c.499G>T (Asp167Tyr) in the <i>RPE65</i> Gene Encoding Retinoid <i>Isomerohydrolase</i> Causing Retinal Dystrophy
RPE65, an abundant membrane-associated protein present in the retinal pigment epithelium (RPE), is a vital retinoid isomerase necessary for regenerating 11-<i>cis</i>-retinaldehyde from <i>all-trans</i> retinol in the visual cycle. In patients with inherited retinal dystrophy (IRD), precise genetic...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , |
|---|---|
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
MDPI AG
2022-12-01
|
| Σειρά: | Current Issues in Molecular Biology |
| Θέματα: | |
| Διαθέσιμο Online: | https://www.mdpi.com/1467-3045/44/12/436 |
| Ετικέτες: |
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!
|