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Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15
Mutations in RPGR(ORF15) are associated with rod-cone or cone/cone-rod dystrophy, the latter associated with mutations at the distal end. We describe the phenotype associated with a novel variant in the terminal codon of the RPGR(ORF15) c.3457T>A (Ter1153Lysext*38), which results in a C-terminal...
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| Vydáno v: | Genes (Basel) |
|---|---|
| Hlavní autoři: | , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
MDPI
2021
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8066792/ https://ncbi.nlm.nih.gov/pubmed/33805381 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12040499 |
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