Učitavanje...
Five major sequence variants and copy number variants in the EYS gene account for one-third of Japanese patients with autosomal recessive and simplex retinitis pigmentosa
PURPOSE: To elucidate the variant spectrum of the EYS gene in a large cohort of Japanese patients with autosomal recessive and simplex retinitis pigmentosa (arRP and sRP). METHODS: We performed a direct sequencing analysis of 44 exons of the EYS gene in 469 patients with RP (including 144 arRP, 288...
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| Izdano u: | Mol Vis |
|---|---|
| Glavni autori: | , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Molecular Vision
2019
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6857781/ https://ncbi.nlm.nih.gov/pubmed/31814702 |
| Oznake: |
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