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Article

Novel OPA1 mutations identified in Japanese pedigrees with optic atrophy.

Molecular vision - 12 May 2006

Qin Minghui, Kondo Hiroyuki, Uno Hideaki, Fujiwara Eriko, Uchio Eiichi, Tahira Tomoko, Hayashi Kenshi

Abstract excerpt

PURPOSE: To determine whether mutations in the OPA1 gene were present in two Japanese families with optic atrophy. METHODS: Thirty exons and their boundaries of the OPA1 gene were amplified by PCR with genomic DNA as templates and directly sequenced. The detected sequence changes were confirmed to be mutations by examining whether they were present in normal control individuals. A splicing mutation was...

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Source

Identifiers

PMID: 16735988

Genes

OPA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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