New recessive compound heterozygous variants of RP1L1 in RP1L1 maculopathy
AIM: To identify a maculopathy patient caused by new recessive compound heterozygous variants in RP1L1. METHODS: Comprehensive retinal morphological and functional examinations were evaluated for the patient with RP1L1 maculopathy. Targeted sequence capture array technique was used to screen potenti...
Gespeichert in:
| Hauptverfasser: | , , , , |
|---|---|
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Press of International Journal of Ophthalmology (IJO PRESS)
2024-01-01
|
| Schriftenreihe: | International Journal of Ophthalmology |
| Schlagworte: | |
| Online-Zugang: | http://ies.ijo.cn/en_publish/2024/1/20240114.pdf |
| Tags: |
Keine Tags, Fügen Sie das erste Tag hinzu!
|