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Article

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

Japanese journal of ophthalmology - 1 Jan 2000

Shimizu Satoko, Mori Naoki, Kishi Mari, Sugata Hirohisa, Tsuda Akiko, Kubota Nobue

Abstract excerpt

PURPOSE: To report a novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1 (OPA1) and to describe the clinical features of this family. METHODS: Standard ocular examinations were performed on the proband and his two affected sons. The DNA sequence of all exons and splice sites of the OPA1 gene was determined to detect mutations. RESULTS: The proband and his sons had a heterozygous...

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Source

Identifiers

PMID: 12063046
DOI: 10.1016/s0021-5155(02)00484-7

Genes

OPA1

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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.

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