Journal article
Genomics and the Eye
The New England Journal of Medicine, Vol.364(20), pp.1932-1942
05/19/2011
DOI: 10.1056/NEJMra1012354
PMID: 21591945
Abstract
The eye has figured prominently in the development of methods to better understand risk factors that underlie disease. This article reviews advances in understanding of the pathogenesis of ophthalmic disorders and describes methods being developed to treat them. The eye has had a pivotal role in the evolution of human genomics. At least 90% of the genes in the human genome are expressed in one or more of the eye's many tissues and cell types at some point during a person's life. Consistent with this impressive genomic footprint is the observation that about a third of entries in the Online Mendelian Inheritance in Man database for which a clinical synopsis is provided include a term that refers to the structure or function of the eye. 1 Moreover, the phenotypic effects of even small genetic variations are made readily apparent . . .
Details
- Title: Subtitle
- Genomics and the Eye
- Creators
- Val C SheffieldEdwin M Stone
- Resource Type
- Journal article
- Publication Details
- The New England Journal of Medicine, Vol.364(20), pp.1932-1942
- DOI
- 10.1056/NEJMra1012354
- PMID
- 21591945
- NLM abbreviation
- N Engl J Med
- ISSN
- 0028-4793
- eISSN
- 1533-4406
- Publisher
- Massachusetts Medical Society
- Language
- English
- Date published
- 05/19/2011
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9983979970002771
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