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

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

Molecular vision - 6 Oct 2006

Jin Zi-Bing, Liu Xiao-Qiang, Hayakawa Mutsuko, Murakami Akira, Nao-i Nobuhisa

Abstract excerpt

PURPOSE: To identify mutations in RPGR and RP2 genes in a series of Japanese retinitis pigmentosa (RP) families and to determine the association between the phenotypic changes in patients/carriers and the mutations. METHODS: A total of 37 unrelated RP families were recruited, three of which were...

Read the complete abstract on PubMed

Topics

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

Share to Electroretinography
Share to Eye Proteins
Share to Fundus Oculi

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTP-Binding Proteins

Share to Intracellular Signaling Peptides and Proteins

Share to Retinitis Pigmentosa

Share to Sequence Analysis

Share to Sex Factors

Source

Identifiers

PMID: 17093403

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17093403-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations.PMID 17093403Read ↗

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

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.Semantic proximity Read ↗

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

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

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

RP2 and RPGR mutations and clinical correlations in patients with X-linked 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 ↗

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

Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa.Semantic proximity Read ↗

Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.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 ↗

RPGR mutation analysis and disease: an update.Semantic proximity Read ↗

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