A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa-Reference-Cited by-同舟云学术

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

Published:2018-07-04 Issue:1 Volume:12 Page:
ISSN:1479-7364
Container-title:Human Genomics
language:en
Short-container-title:Hum Genomics

Author:

Chen Yabin,Huang Li,Jiao Xiaodong,Riazuddin Sheikh,Riazuddin S. Amer,Fielding Hetmancik J.

Funder

National Eye Institute

Publisher

Springer Science and Business Media LLC

Subject

Drug Discovery,Genetics,Molecular Biology,Molecular Medicine

Link

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

Reference19 articles.

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2. Bird AC. Retinal photoreceptor dystrophies LI. Edward Jackson memorial lecture. AmJOphthalmol. 1995;119:543–62.

3. Bunker CH, Berson EL, Bromley WC, Hayes RP, Roderick TH. Prevalence of retinitis pigmentosa in Maine. AmJOphthalmol. 1984;97:357–65.

4. Rivolta C, Sharon D, DeAngelis MM, Dryja TP. Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. HumMolGenet. 2002;11:1219–27.

5. Sears AE, Palczewski K. Lecithin:retinol acyltransferase: a key enzyme involved in the retinoid (visual) cycle. Biochemistry. 2016;55:3082–91.

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