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Article

The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2006

Ke Tie, Nie Shang-wu, Yang Qin-bo, Liu Jian-ping, Zhou Lin-na, Ren Xiang, Liu Jing-yu, Wang Qing, Liu Mu-gen

Abstract excerpt

OBJECTIVE: To describe the clinical and genetic characteristics of a Chinese family affected with optic atrophy 1 (OPA1). METHODS: Linkage analysis and DNA sequencing as well as PCR/restriction fragment length polymorphism (RFLP) analysis were performed to identify the disease-causing mutation. R...

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Source

Identifiers

PMID: 17029191

Genes

OPA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17029191-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

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

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