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...
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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Press of International Journal of Ophthalmology (IJO PRESS)
2024-01-01
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| Serie: | International Journal of Ophthalmology |
| Soggetti: | |
| Accesso online: | http://ies.ijo.cn/en_publish/2024/1/20240114.pdf |
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