作者: David N Cooper , Marcelle Jay , Shomi Bhattacharya , Barrie Jay
DOI: 10.1038/EYE.1987.114
关键词: Molecular genetics 、 Visual pigments 、 Retinoblastoma 、 Gyrate atrophy 、 Ophthalmology 、 Disease 、 Retinitis pigmentosa 、 Ophthalmic disease 、 Medicine 、 Bioinformatics
摘要: In this review of the recent literature, contribution that new techniques molecular genetics has made in analysis and diagnosis human ophthalmic conditions is presented discussed. Among disorders reviewed are X-linked retinitis pigmentosa, Norrie's disease, gyrate atrophy retinoblastoma, there also sections on crystallins visual pigments.