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

Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation.

Biochimica et biophysica acta - 1 Mar 2010

Qu Jia, Zhou Xiangtian, Zhao Fuxin, Liu Xiaoling, Zhang Minglian, Sun Yan-Hong, Liang Min, Yuan Meixia, Liu Qi, Tong Yi, Wei Qi-Ping, Yang Li, Guan Min-Xin

Abstract excerpt

BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a maternally inherited disorder. The purpose of this investigation is to understand the role of mitochondrial haplotypes in the development of LHON associated with ND6 T14484C mutation in Chinese families. METHODS: One hundred fourteen subjects from ten Han Chinese families with LHON were studied by the clinical and genetic evaluation as well as molecular...

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 China

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

Share to DNA, Mitochondrial

Share to NADH Dehydrogenase

Share to Optic Atrophy, Hereditary, Leber

Share to Sequence Deletion

Share to Visual Acuity

Share to Visual Fields

Source

Open in PubMed Open full text

Identifiers

PMID: 19733221
DOI: 10.1016/j.bbagen.2009.08.010
PMCID: PMC2826595

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

Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation.PMID 19733221Read ↗

Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation.Semantic proximity Read ↗

Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families.Semantic proximity Read ↗

Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.Semantic proximity Read ↗

Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families.Semantic proximity Read ↗

Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy.Semantic proximity Read ↗

Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation.Semantic proximity Read ↗

Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families.Semantic proximity Read ↗

Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation.Semantic proximity Read ↗

Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families.Semantic proximity Read ↗

The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss.Semantic proximity Read ↗

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