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

[Hearing loss and epilepsy may be associated with the novel mitochondrial tRNASer(UCN) 7472delC mutation in a Chinese family].

Yi chuan = Hereditas - 1 Dec 2008

Zhao Jian-Yue, Tang Xiao-Wen, Lan Jin-Shan, Lv Jian-Xin, Yang Li, Li Zhi-Yuan, Zhu Yi, Sun Dong-Mei, Yang Ai-Fen, Wang Jin-Dan, Xu Jing, Guan Min-Xin

Abstract excerpt

Mutations in mitochondrial DNA have been associated with a wide spectrum of clinical abnormalities. We reported here the clinical and genetic evaluations as well as mutational analysis of mitochondrial DNA(mtDNA) in a three-generation Chinese Han family with maternally transmitted hearing loss and epilepsy. Of 14 matrilineal relatives, three suffered from hearing loss, three had epilepsy, and other did not have...

Read the complete abstract on PubMed

Topics

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

Share to Connexin 26
Share to Connexins

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

Share to DNA, Mitochondrial

Share to Epilepsy

Share to Hearing Loss

Share to Nucleic Acid Conformation

Share to RNA, Transfer, Ser

Share to Sequence Deletion

Source

Identifiers

PMID: 19073569
DOI: 10.3724/sp.j.1005.2008.01557

Genes

UCN
GJB2

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

[Hearing loss and epilepsy may be associated with the novel mitochondrial tRNASer(UCN) 7472delC mutation in a Chinese family].PMID 19073569Read ↗

[Hearing loss may be associated with the novel mitochondrial tRNA(Asp) A7551G mutation in a Chinese family].Semantic proximity Read ↗

Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss.Semantic proximity Read ↗

Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.Semantic proximity Read ↗

Low penetrance of hearing loss in two Chinese families carrying the mitochondrial tRNASer(UCN) mutations.Semantic proximity Read ↗

Mitochondrial tRNA mutations in 887 Chinese subjects with hearing loss.Semantic proximity Read ↗

Mitochondrial tRNASer(UCN) 7471delC may be a novel mutation associated with maternally transmitted hypertension.Semantic proximity Read ↗

[Mutations of mitochondrial tRNASer(UCN) and their connection with hearing loss].Semantic proximity Read ↗

Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.Semantic proximity Read ↗

Mitochondrial tRNAGly A10055G mutation contributes to non-syndromic hearing loss: a study of three Han Chinese pedigrees.Semantic proximity Read ↗

Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene.Semantic proximity Read ↗

[Mitochondrial DNA G7444A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation].Semantic proximity Read ↗

Isolated hearing loss associated with T7511C mutation in mitochondrial DNA.Semantic proximity Read ↗

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