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

Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa.

The journal of gene medicine - 1 Oct 2020

Owczarek-Lipska Marta, Song Fei, Jakšić Vesna, Neidhardt John

Abstract excerpt

BACKGROUND: Retinitis pigmentosa (RP) is one of the most common form of inherited retinal dystrophies. Identification of disease-causing mutations is a prerequisite for applying targeted therapeutic approaches. The present study aimed to identify disease-associated mutations in a large Serbian family, in which two brothers have suffered from RP starting in the first decade of their lives. METHODS: The index...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to cis-trans-Isomerases
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Heterozygote

Share to Pedigree

Share to Retinitis Pigmentosa

Share to RNA Splice Sites

Source

Identifiers

PMID: 32367544
DOI: 10.1002/jgm.3211

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

Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa.PMID 32367544Read ↗

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

The clinical features of retinal disease due to a dominant mutation in RPE65.Semantic proximity Read ↗

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individualsSemantic proximity Read ↗

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

RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India.Semantic proximity Read ↗

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

Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65.Semantic proximity Read ↗

Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.Semantic proximity Read ↗

Clinical features of autosomal dominant retinitis pigmentosa associated with a Rhodopsin mutation.Semantic proximity Read ↗

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.Semantic proximity Read ↗

A molecular case report of autosomal dominant retinitis pigmentosa: RP1/RHO sequence variants in a Turkish family.Semantic proximity Read ↗

A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated populationSemantic proximity Read ↗

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