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

Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa.

Ophthalmic genetics - 1 Apr 2024

Zhuang Jianfu, Zhang Rongcai, Zhou Biting, Cao Zongfu, Zhou Jie, Chen Xiaole, Zhang Nanwen, Zhu Yihua, Yang Juhua

Abstract excerpt

PURPOSE: To identify RHO mutations in patients with non-syndromic retinitis pigmentosa (NS-RP). METHODS: A total of 143 probands (46 family history and 97 sporadic cases) with NS-RP were recruited from Southeast China. The coding exons and adjacent intronic regions of RHO were PCR-amplified and sequenced by Sanger sequencing. The candidate variant was evaluated by the guidelines of American College of Medical...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to RHO gene

Share to Mutation

Share to Pedigree

Share to Retinitis Pigmentosa

Share to Rhodopsin

Source

Identifiers

PMID: 38284172
DOI: 10.1080/13816810.2023.2294843

Genes

RHO

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa.PMID 38284172Read ↗

Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa.Semantic proximity Read ↗

Novel rhodopsin mutation in a Chinese family with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Expanding the clinical and genetic spectrum of RHO-associated retinitis pigmentosa.Semantic proximity Read ↗

Spectrum of rhodopsin gene mutations in Chinese patients with retinitis pigmentosa.Semantic proximity Read ↗

Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.Semantic proximity Read ↗

Sector Retinitis Pigmentosa caused by mutations of the RHO geneSemantic proximity Read ↗

Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsinSemantic proximity Read ↗

Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa.Semantic proximity Read ↗

Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa.Semantic proximity Read ↗

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.Semantic proximity Read ↗

Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Genotype and phenotype characteristics of RHO-associated retinitis pigmentosa in the Japanese population.Semantic proximity Read ↗

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