Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP)-Reference-Cited by-同舟云学术

Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP)

Published:2015-10-02 Issue: Volume: Page:193-200
ISSN:0065-2598
Container-title:Retinal Degenerative Diseases
language:
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Author:

Daiger Stephen P.,Sullivan Lori S.,Bowne Sara J.,Koboldt Daniel C.,Blanton Susan H.,Wheaton Dianna K.,Avery Cheryl E.,Cadena Elizabeth D.,Koenekoop Robert K.,Fulton Robert S.,Wilson Richard K.,Weinstock George M.,Lewis Richard A.,Birch David G.

Publisher

Springer International Publishing

Link

http://link.springer.com/content/pdf/10.1007/978-3-319-17121-0_26

Reference14 articles.

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2. Bowne SJ, Humphries MM, Sullivan LS et al (2011) A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Euro J Hum Genet 19:1074–1081

3. Churchill JD, Bowne SJ, Sullivan LS et al (2013) Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5 % of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 54:1411–1416

4. Daiger SP, Bowne SJ, Sullivan LS (2007) Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol 125:151–158

5. Daiger SP, Bowne SJ, Sullivan LS (2014a) Genes and mutations causing autosomal dominant retinitis pigmentosa. Cold Spring Harb Perspect Med. pii: a017129. doi: 10.1101/cshperspect.a017129. [Epub ahead of print]

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