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

[Novel RPGR gene mutation in a Chinese family with X-linked recessive retinitis pigmentosa].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 1 Jun 2011

Li Zi-li, Zhuang Wen-juan, Zhao Wei, Zhang Xin-fang, Wang Jing, Meng Rui-hua, Rong Wei-ning, Sheng Xun-lun

Abstract excerpt

OBJECTIVE: To screen the mutation in the RPGR gene in a large Chinese family with X-linked recessive retinitis pigmentosa (RP) and to describe the phenotype in affected males and female carriers. METHODS: Ophthalmic examinations were performed in 77 family members of a RP pedigree to identify affected individuals. Polymerase chain reaction (PCR) and direct sequencing were used for screening of mutations in RPGR...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Case-Control Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Frameshift Mutation

Share to Genetic Diseases, X-Linked

Share to Pedigree

Share to Retinitis Pigmentosa

Source

Identifiers

PMID: 21914266

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Novel RPGR gene mutation in a Chinese family with X-linked recessive retinitis pigmentosa].PMID 21914266Read ↗

A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.Semantic proximity Read ↗

Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.Semantic proximity Read ↗

X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female CarriersSemantic proximity Read ↗

Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature ReviewSemantic proximity Read ↗

Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation.Semantic proximity Read ↗

Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations.Semantic proximity Read ↗

Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia.Semantic proximity Read ↗

A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa.Semantic proximity Read ↗

Homozygous females for a X-linked RPGR-ORF15 mutation in an Iranian family with retinitis pigmentosa.Semantic proximity Read ↗

Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes.Semantic proximity Read ↗

A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation.Semantic proximity Read ↗

Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa.Semantic proximity Read ↗

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