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Article

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

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2008

Kang Yang, Yuan Hui-ping, Li Yuan-yuan

Abstract excerpt

OBJECTIVE: To identify the mutation of the PAX6 gene in a northeastern Chinese family with aniridia. METHODS: Three aniridia patients from the family were undergone full ophthalmologic examinations. Genomic DNA was prepared from venous leukocytes from these three patients, five non-carriers in the family as well as 100 healthy normal controls. The coding regions of PAX6 gene were analyzed by PCR amplification,...

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PMID: 18393239

Genes

PAX6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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