Two variants of the ferredoxin reductase (FDXR) causing isolated retinitis pigmentosa
Objective: The FDXR gene encodesferredoxin reductase, which is a mitochondrial membrane protein and plays a role in Fe-S cluster synthesis. Loss of function in this gene causes intracellular iron accumulation, leading to dysfunction, especially in nervous system cells. To date, 46 patients with bia...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Aydın Pediatric Society
2024-12-01
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| Series: | Trends in Pediatrics |
| Subjects: | |
| Online Access: | https://trendspediatrics.com/article/view/133 |