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Molecular genetics of infantile-onset retinal dystrophies

Moradi, P; Moore, AT; (2007) Molecular genetics of infantile-onset retinal dystrophies. EYE , 21 (10) 1344 - 1351. 10.1038/sj.eye.6702843.

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Abstract

Over the last decade there have been major advances in our understanding of the molecular pathology of inherited retinal dystrophies. This paper reviews recent advances in the identification of genetic mutations underlying infantile-onset inherited retinal disorders and considers how this knowledge may lead to novel therapeutic approaches.

Type: Article
Title: Molecular genetics of infantile-onset retinal dystrophies
DOI: 10.1038/sj.eye.6702843
Keywords: retina, inherited, paediatric, gene, LEBER CONGENITAL AMAUROSIS, STATIONARY NIGHT-BLINDNESS, BLUE CONE MONOCHROMATISM, RECESSIVE RETINITIS-PIGMENTOSA, CILIARY NEUROTROPHIC FACTOR, TUBBY-LIKE PROTEIN-1, HUMAN COLOR-VISION, ALPHA-SUBUNIT, CANINE MODEL, TOTAL COLOURBLINDNESS
URI: http://discovery.ucl.ac.uk/id/eprint/118230
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