| Autor: |
Anh T H, Nguyen, Matthew, Campbell, Anna-Sophia, Kiang, Marian M, Humphries, Peter, Humphries |
| Rok vydání: |
2014 |
| Předmět: |
|
| Zdroj: |
Advances in experimental medicine and biology. 801 |
| ISSN: |
0065-2598 |
| Popis: |
The first autosomal dominant mutation identified to cause retinitis pigmentosa in the North American population was the substitution of proline to histidine at position 23 of the rhodopsin gene (P23H RHO). Many biochemical studies have demonstrated that P23H mutation induces rhodopsin (RHO) misfolding leading to endoplasmic reticulum stress. Herein, we review current thinking of this topic. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
