Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population.

Orphanet journal of rare diseases - 13 Apr 2021

Gao Feng-Juan, Wang Dan-Dan, Li Jian-Kang, Hu Fang-Yuan, Xu Ping, Chen Fang, Qi Yu-He, Liu Wei, Li Wei, Zhang Sheng-Hai, Chang Qing, Xu Ge-Zhi, Wu Ji-Hong

Abstract excerpt

BACKGROUND: The retinoid isomerohydrolase RPE65 has received considerable attention worldwide since a successful clinical gene therapy was approved in 2017 as the first treatment for vision loss associated with RPE65-mediated inherited retinal disease. Identifying patients with RPE65 mutations is a prerequisite to assessing the patients' eligibility to receive RPE65-targeted gene therapies, and it is necessary to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to cis-trans-Isomerases

Share to Mutation

Share to Phenotype

Share to Retinal Development and Disorders

Share to Visual Acuity

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 33952291
DOI: 10.1186/s13023-021-01807-3
PMCID: PMC8097799

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population.PMID 33952291Read ↗

RPE 65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in ChinaSemantic proximity Read ↗

Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysisSemantic proximity Read ↗

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration: A study from a tertiary eye care center in Brazil.Semantic proximity Read ↗

Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.Semantic proximity Read ↗

Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.Semantic proximity Read ↗

Pathogenicity and Functional Analysis of Multi-Variant Allele of RPE65 Causing Retinitis Pigmentosa.Semantic proximity Read ↗

A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation.Semantic proximity Read ↗

Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy.Semantic proximity Read ↗

A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis.Semantic proximity Read ↗

Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients.Semantic proximity Read ↗

RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.Semantic proximity Read ↗

Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.