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Article

[Analysis of PAX6 gene mutation in a 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

Kang Yang, Li Xue, Wu Qiong, Zhou Wenyan, Li Qingjun, Hu Qi

Abstract excerpt

OBJECTIVE: To identify potential mutation of the PAX6 gene in a family affected with congenital aniridia from northeastern China. METHODS: Two patients were collected from the family and underwent full ophthalmologic examinations. Genomic DNA was extracted from all family numbers and 100 healthy controls. The coding regions and flanking sequence of the PAX6 gene were amplified by PCR amplification and subjected...

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Source

Identifiers

PMID: 27455012
DOI: 10.3760/cma.j.issn.1003-9406.2016.04.021

Genes

PAX6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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