A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement-Reference-Cited by-同舟云学术

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

Published:2011-06-08 Issue:10 Volume:19 Page:1074-1081
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Bowne Sara J,Humphries Marian M,Sullivan Lori S,Kenna Paul F,Tam Lawrence C S,Kiang Anna S,Campbell Matthew,Weinstock George M,Koboldt Daniel C,Ding Li,Fulton Robert S,Sodergren Erica J,Allman Denis,Millington-Ward Sophia,Palfi Arpad,McKee Alex,Blanton Susan H,Slifer Susan,Konidari Ioanna,Farrar G Jane,Daiger Stephen P,Humphries Peter

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201186.pdf

Reference42 articles.

1. Heckenlively JR : Retinitis Pigmentosa. Philadelphia, PA, USA: J.B. Lippincott, 1988.

2. Heckenlively JR, Daiger SP : Hereditary Retinal and Choroidal Degenerations, 5th edn. New York, NY, USA: Churchill Livingston Elsevier, 2007.

3. Haim M : Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol Scand Suppl 2002; 233: 1–34.

4. RetNet: The Retinal Information Network http://www.sph.uth.tmc.edu/RetNet/ Stephen P. Daiger, PhD, Administrator, The Univ. of Texas Health Science Center at Houston, 1996-present.

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

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