The human retinitis pigmentosa GTPase regulator gene variant database
β Scribed by Xinhua Shu; Ewan McDowall; Alastair F. Brown; Alan F. Wright
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 212 KB
- Volume
- 29
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
β¦ Synopsis
Communicated by Mark H
π SIMILAR VOLUMES
## For the Mutation Pathogenicity Special Issue Germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2 can cause Lynch syndrome. This syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is an autosomal dominantly-inherited disorder predominantly chara
By screening patients with autosomal dominant retinitis pigmentosa for mutations in the rhodopsin gene, two deletions (8 bp and 1 bp) have been identified in exon 5; these deletions cause a shift in the reading frame. The predicted proteins should be radically altered with translation continuing pas
## Abstract The purpose of this study was to characterize the early molecular responses to quantified levels of oxidative stress (OS) in the human retinal pigment epithelium (RPE). Confluent ARPEβ19 cells were cultured for 3 days in defined medium to stabilize gene expression. The cells were expose