Autosomal dominant RP PHRC134

NIAID Data Ecosystem2026-03-11 收录

视网膜色素变性

疾病基因发现

数据链接：

https://www.ncbi.nlm.nih.gov/sra/SRP265395 数据链接链接失效反馈

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资源简介：

Genetics analysis identified a novel gene in a large family with retinitis pigmentosa

创建时间：

2020-06-01

Table_4_Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.XLSX

基因型-表型关联

视网膜色素变性

PurposeRPGR is the most common cause of X-linked retinitis pigmentosa (RP), of which female carriers are also frequently affected. The aim of the current study was to explore the RPGR variation spectr

NIAID Data Ecosystem50

50_ID_WGS_CG_DESC_BvB52_M - samples

基因组测序

疾病基因发现

50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array,

NIAID Data Ecosystem50

Effects and mechanisms of water-soluble Semen cassiae polysaccharide on retinitis pigmentosa in rats

视网膜色素变性

药物机制

Abstract This study aimed to investigate the effects and mechanisms of water-soluble Semen cassiae polysaccharide (SCP) on retinitis pigmentosa (RP) in rats. One hundred rats were randomly divided int

DataCite Commons2020-08-26 更新30

Supplementary Material for: RNA-seq analysis for exploring the pathogenesis of Retinitis pigmentosa in P23H knock-in mice

视网膜色素变性

RNA-seq分析

Medicine

DataCite Commons2021-05-14 更新50

Human blood metagenome Genome sequencing. human blood metagenome

基因组测序

视网膜色素变性

Mutation screening in retinitis pigmentosa

NIAID Data Ecosystem40