[Clinical features and genetic analysis of child with Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 due to variant of DNA2 gene].

The c.1590G>C (p.L530F) variant of the DNA2 gene probably underlay the PEOA6 in this child.

Authors

Institutions

Publication Details

Journal
PubMed
Published
2024-10-10
DOI
https://doi.org/10.3760/cma.j.cn511374-20231020-00211
Primary Topic
Craniofacial Disorders and Treatments
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

[Clinical features and genetic analysis of child with Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 due to variant of DNA2 gene].

Lingling Wu, Yazhen Di, Lulu Yan, Jiangyang Xue et al.
PubMed
Craniofacial Disorders and Treatments
article

[Clinical features and genetic analysis of child with Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 due to variant of DNA2 gene].

Lingling Wu, Yazhen Di, Lulu Yan, Jiangyang Xue, Haibo Li, Yuanling Chen, Jika Zheng
article en

Abstract

The c.1590G>C (p.L530F) variant of the DNA2 gene probably underlay the PEOA6 in this child.

PubMedVol. 41(10)
Ningbo University (CN), Ningbo University Affiliated Hospital (CN)
Openalex Percentile: Top 81%
Craniofacial Disorders and Treatments
DOISourceOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.