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

OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy.

Japanese journal of ophthalmology - 1 Jan 2012

Hamahata Tetsuya, Fujimaki Takuro, Fujiki Keiko, Miyazaki Ai, Mizota Atsushi, Murakami Akira

Abstract excerpt

PURPOSE: To report three types of heterozygous mutations in the OPA1 gene in five patients from three families with autosomal dominant optic atrophy (ADOA, MIM#165500). METHODS: DNA was extracted from the leukocytes of the peripheral blood. For mtDNA, mutations were examined at positions 11778, 3460 and 14484. For the OPA1 gene, the exons were amplified by PCR and mutations were detected by restriction enzymes or...

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 DNA, Mitochondrial

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

Share to DNA Mutational Analysis

Share to GTP Phosphohydrolases

Share to Optic Atrophy, Autosomal Dominant

Share to Visual Acuity

Share to Visual Fields

Source

Identifiers

PMID: 22042570
DOI: 10.1007/s10384-011-0096-1

Genes

OPA1

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

OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy.PMID 22042570Read ↗

Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.Semantic proximity Read ↗

A novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1.Semantic proximity Read ↗

A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy.Semantic proximity Read ↗

A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy.Semantic proximity Read ↗

Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.Semantic proximity Read ↗

Novel OPA1 mutations identified in Japanese pedigrees with optic atrophy.Semantic proximity Read ↗

Novel mutations of the OPA1 gene in Chinese dominant optic atrophy.Semantic proximity Read ↗

OPA1 gene mutations in Japanese patients with bilateral optic atrophy unassociated with mitochondrial DNA mutations at nt 11778, 3460, and 14484.Semantic proximity Read ↗

[A novel mutation of the type 1 optic atrophy(OPA1) gene in a Japanese family with OPA1].Semantic proximity Read ↗

Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.Semantic proximity Read ↗

Mitochondrial DNA content is decreased in autosomal dominant optic atrophy.Semantic proximity Read ↗

The OPA1 Gene Mutations Are Frequent in Han Chinese Patients with Suspected Optic Neuropathy.Semantic proximity Read ↗

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