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Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis
PURPOSE: We comprehensively evaluated the mutational spectrum of Leber congenital amaurosis (LCA) and investigated the molecular diagnostic rate and genotype–phenotype correlation in a Korean cohort. METHODS: This single-center retrospective case series included 50 Korean patients with LCA between J...
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| Pubblicato in: | Mol Vis |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Molecular Vision
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7043639/ https://ncbi.nlm.nih.gov/pubmed/32165824 |
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