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

Targeted next-generation sequencing extends the mutational spectrums for OPA1 mutations in Chinese families with optic atrophy.

Molecular vision - 1 Jan 2019

Wang Yuwei, Xu Min, Liu Xiaoxing, Huang Yongheng, Zhou Yao, Liu Qinghuai, Chen Xue, Zhao Chen, Wang Min

Abstract excerpt

Purpose: We aim to reveal the disease-causing mutations in 15 Chinese families with optic atrophy (OA). Methods: In total, 15 families with OA were recruited in the present study. Medical histories were carefully reviewed and comprehensive ophthalmic examinations were received by all recruited patients. Targeted next-generation sequencing (NGS) was selectively performed on all probands for mutation detection....

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 Child

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

Share to Family

Share to Fundus Oculi

Share to GTP Phosphohydrolases

Share to High-Throughput Nucleotide Sequencing

Share to Optic Atrophy, Autosomal Dominant

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 32025183
PMCID: PMC6982427

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

Targeted next-generation sequencing extends the mutational spectrums for OPA1 mutations in Chinese families with optic atrophy.PMID 32025183Read ↗

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

Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis.Semantic proximity Read ↗

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

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

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

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

Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.Semantic proximity Read ↗

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

Genetic Spectrum and Characteristics of Hereditary Optic Neuropathy in Taiwan.Semantic proximity Read ↗

Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.Semantic proximity Read ↗

Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree.Semantic proximity Read ↗

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

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