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

A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly.

Clinica chimica acta; international journal of clinical chemistry - 1 Aug 2016

You Guolin, Cai Haiqing, Jiang Limin, Zheng Zhaojing, Wang Bo, Fu Qihua, Wang Jing

Abstract excerpt

No abstract is available from the source.

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
Share to Connexin 43
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Dominant

Share to High-Throughput Nucleotide Sequencing

Share to Models, Molecular

Share to Syndactyly

Source

Identifiers

PMID: 27241686
DOI: 10.1016/j.cca.2016.05.024

Genes

GJA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly.PMID 27241686Read ↗

Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.Semantic proximity Read ↗

Whole exome sequencing reveals two novel mutations in GREB1L in two Chinese families with renal agenesis.Semantic proximity Read ↗

A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family.Semantic proximity Read ↗

Identification and functional analysis of two GJA8 variants in Chinese families with eye anomalies.Semantic proximity Read ↗

GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia.Semantic proximity Read ↗

Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome.Semantic proximity Read ↗

Wan Du et al. - Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants. Acta Oto-Laryngol 2014; 134: 373-381.Semantic proximity Read ↗

Erratum to: Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencingSemantic proximity Read ↗

[A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia].Semantic proximity Read ↗

Case report: exome sequencing achieved a definite diagnosis in a Chinese family with muscle atrophy.Semantic proximity Read ↗

Novel SOD1 mutation discovered in atypical ALS by whole exome sequencing.Semantic proximity Read ↗

A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.Semantic proximity Read ↗

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