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

[Analysis of NFU1 gene mutation in a Chinese family affected with multiple mitochondrial dysfunction syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2017

Bai Ying, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To detect potential mutation of NFU1 gene in a Chinese family affected with multiple mitochondrial dysfunction syndrome (MMDS). METHODS: For a mother with two children died of MMDS, next-generation sequencing (NGS) was used to scan her exome. Suspected mutation was validated with PCR and Sanger sequencing. Potential mutation of exons 1 to 8 and flanking regions of the NFU1 gene was also detected in the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Carrier Proteins
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Fatal Outcome

Share to High-Throughput Nucleotide Sequencing

Share to Mitochondrial Diseases

Share to Sequence Deletion

Share to Sequence Homology, Nucleic Acid

Source

Identifiers

PMID: 28186588
DOI: 10.3760/cma.j.issn.1003-9406.2017.01.006

Genes

NFU1

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Analysis of NFU1 gene mutation in a Chinese family affected with multiple mitochondrial dysfunction syndrome].PMID 28186588Read ↗

Novel NFU1 Variants Induced MMDS Behaved as Special Leukodystrophy in Chinese Sufferers.Semantic proximity Read ↗

[Compound heterozygous NDUFS1 variants identified in a Chinese pedigree affected with mitochondrial respiratory chain complex I deficiency].Semantic proximity Read ↗

[Analysis of NF1 gene variants among thirteen patients with neurofibromatosis type 1].Semantic proximity Read ↗

A Comprehensive Overview of NF1 Mutations in Iranian Patients.Semantic proximity Read ↗

The genetic spectrum of NF1 variants in 10 unrelated Chinese families with neurofibromatosis type 1.Semantic proximity Read ↗

[Identification of a novel DGUOK variant in a Chinese family affected with mitochondrial DNA depletion syndrome].Semantic proximity Read ↗

[Analysis of genetic variant in a Chinese pedigree affected with neurofibromatosis type I].Semantic proximity Read ↗

NFU1 gene mutation and mitochondrial disorders.Semantic proximity Read ↗

Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy.Semantic proximity Read ↗

[Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome].Semantic proximity Read ↗

[Diagnosis of mitochondrial disorders in children with next generation sequencing].Semantic proximity Read ↗

Novel IBA57 mutations in two chinese patients and literature review of multiple mitochondrial dysfunction syndrome.Semantic proximity Read ↗

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