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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Detalles Bibliográficos
Autores principales: Chen, Yabin, Huang, Li, Jiao, Xiaodong, Riazuddin, Sheikh, Amer Riazuddin, S., Fielding Hetmancik, J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6033202/
https://www.ncbi.nlm.nih.gov/pubmed/29973277
http://dx.doi.org/10.1186/s40246-018-0165-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6033202/
https://www.ncbi.nlm.nih.gov/pubmed/29973277
http://dx.doi.org/10.1186/s40246-018-0165-3

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