| 书目名称 | Hereditary Retinopathies | | 副标题 | Progress in Developm | | 编辑 | Pete Humphries,Marian M. Humphries,Anna-Sophia Kia | | 视频video | | | 概述 | Provides a snap-shot of current gene and drug-based therapies for hereditary retinal disorders.The authors explore emerging topics such as novel gene or drug delivery methods to the retina and retinal | | 丛书名称 | SpringerBriefs in Genetics | | 图书封面 |  | | 描述 | The hereditary retinopathy, retinitis pigmentosa (RP), which affects 1 in 3,500 people worldwide, is the most common cause of registered visual handicap among those of the working age in developed countries. RP is a highly variable disorder where patients may develop symptomatic visual loss in early childhood, while others may remain asymptomatic until mid-adulthood. Most cases of RP segregate in autosomal dominant, recessive or X-linked recessive modes, with approximately 41 genes being implicated in disease pathology to date (RetNet). The extensive genetic heterogeneity associated with autosomal dominant RP (adRP) is an undisputed hindrance to the development of genetically based therapeutics. | | 出版日期 | Book 2012 | | 关键词 | gene therapy | | 版次 | 1 | | doi | https://doi.org/10.1007/978-1-4614-4499-2 | | isbn_softcover | 978-1-4614-4498-5 | | isbn_ebook | 978-1-4614-4499-2Series ISSN 2191-5563 Series E-ISSN 2191-5571 | | issn_series | 2191-5563 | | copyright | The Author(s) 2012 |
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