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Article

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

Yi chuan = Hereditas - 1 Oct 2008

Sun Da-Guang, Yang Ju-Hua, Tong Yi, Zhao Guang-Jian, Ma Xu

Abstract excerpt

To study the molecular genetic mechanism of hereditary congenital aniridia, the entire coding exons (exon 4-13) of PAX6 gene and the flanking exon-intron junctions were amplified through PCR from the genomic DNA of all the two patients in a Chinese family with aniridia. PCR products were purified...

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Source

Identifiers

PMID: 18930890
DOI: 10.3724/sp.j.1005.2008.01301

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18930890-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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