A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa

A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa

Abstract 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...

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Bibliographic Details
Main Authors: Yabin Chen, Li Huang, Xiaodong Jiao, Sheikh Riazuddin, S. Amer Riazuddin, J. Fielding Hetmancik
Format: Article
Language:English
Published: BMC 2018-07-01
Series:Human Genomics
Subjects:
Retinitis pigmentosa
LRAT
Splicing mutation
Cryptic splice site
Minigene assay
Exon splicing
Online Access:http://link.springer.com/article/10.1186/s40246-018-0165-3

Internet

http://link.springer.com/article/10.1186/s40246-018-0165-3

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