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Article

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

Nippon Ganka Gakkai zasshi - 1 Jul 2002

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

Abstract excerpt

PURPOSE: To report a novel mutation of the type1 optic atrophy(OPA1) gene in a Japanese family with 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 mutation...

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Source

Identifiers

PMID: 12187822

Genes

OPA1

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.

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