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A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa
BACKGROUND AND PURPOSE: Retinitis pigmentosa is an important cause of severe visual dysfunction. This study reports a novel splicing mutation in the lecithin retinol acyltransferase (LRAT) gene associated with early onset retinitis pigmentosa and characterizes the effects of this mutation on mRNA sp...
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| Publicado no: | Hum Genomics |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6033202/ https://ncbi.nlm.nih.gov/pubmed/29973277 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-018-0165-3 |
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