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 PAX6 gene mutations in a Chinese family affected with congenital aniridia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2016

Chen Jing, Zhu Jianfang

Abstract excerpt

OBJECTIVE: To investigate the mutation of PAX6 gene in a Chinese family affected with congenital aniridia. METHODS: Blood samples were drawn from family members, and DNA was analyzed by direct sequencing. RESULTS: A heterozygous mutation (c.151 G>A) was identified in the PAX6 gene in the proband and other patients from the family. The same mutation was not found among unaffected family members and 160 unrelated...

Read the complete abstract on PubMed

Topics

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

Share to Aniridia
Share to Eye Proteins
Share to PAX6 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to Mutation

Share to Paired Box Transcription Factors

Share to PAX6 Transcription Factor

Share to Repressor Proteins

Source

Identifiers

PMID: 27455013
DOI: 10.3760/cma.j.issn.1003-9406.2016.04.022

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Analysis of PAX6 gene mutations in a Chinese family affected with congenital aniridia].PMID 27455013Read ↗

[A novel mutation of the PAX6 gene in a Chinese family with aniridia].Semantic proximity Read ↗

[A novel mutation of the PAX6 gene identified in a northeastern Chinese family with congenital aniridia].Semantic proximity Read ↗

[Analysis of PAX6 gene mutation in a family affected with congenital aniridia].Semantic proximity Read ↗

Novel mutations of the PAX6 gene identified in Chinese patients with aniridia.Semantic proximity Read ↗

A rare PAX6 mutation in a Chinese family with congenital aniridia.Semantic proximity Read ↗

Mutation spectrum of PAX6 in Chinese patients with aniridia.Semantic proximity Read ↗

Mutation analysis of PAX6 gene in a large Chinese family with aniridia.Semantic proximity Read ↗

[A novel PAX6 mutation (c.1286delC) in the patients with hereditary congenital aniridia.].Semantic proximity Read ↗

Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations.Semantic proximity Read ↗

Two novel PAX6 mutations identified in northeastern Chinese patients with aniridia.Semantic proximity Read ↗

A novel variant in PAX6 as the cause of aniridia in a Chinese family.Semantic proximity Read ↗

Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family.Semantic proximity Read ↗

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