Identification of novel gene associated with inherited retinal disease

NIAID Data Ecosystem2026-03-12 收录

遗传性视网膜疾病

基因关联发现

数据链接：

https://www.ncbi.nlm.nih.gov/bioproject/PRJNA746691 数据链接链接失效反馈

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资源简介：

To identify novel genes associated with inherited retinal disease

创建时间：

2021-07-15

Supplementary Material for: Current management of patients with RPE65 mutation-associated Inherited Retinal Degenerations (RPE65-IRD) in Europe. Results of a 2 years follow-up multinational survey

遗传性视网膜疾病

患者管理

Introduction: To evaluate the current management of RPE65-biallelic mutation-associated inherited retinal degeneration (RPE65-IRD) in Europe since market authorization of Voretigene Neparvovec (VN, Lu

DataCite Commons2023-07-22 更新90

Homo sapiens Targeted Locus (Loci). Homo sapiens

遗传性视网膜疾病

基因靶向定位

Inherited retinal dystrophy

NIAID Data Ecosystem40

Table2_Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.XLSX

遗传性视网膜疾病

成本效益基因测序分析

Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photorecep

NIAID Data Ecosystem20

StoneRounds Case: SR46

遗传性视网膜疾病

RP2基因突变

StoneRounds Case SR46 was diagnosed with XL Retinitis Pigmentosa likely caused by mutations in the gene: RP2.

DataCite Commons2021-06-11 更新50

Table_1_Decrease of FZD4 exon 1 methylation in probands from FZD4-associated FEVR family of phenotypic heterogeneity.DOCX

遗传性视网膜疾病

表观遗传调控

Familial exudative vitreoretinopathy (FEVR) is an important cause of childhood blindness and is clinically characterized by phenotypic heterogeneity. FEVR patients harboring the same genetic mutation

NIAID Data Ecosystem20

Identification of novel gene associated with inherited retinal disease

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