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Article

De novo deletions in the paired domain of PAX6 in south Indian aniridic patients.

Journal of human genetics - 1 Jan 2004

Neethirajan Guruswamy, Collinson J Martin, Krishnadas Subbaiah Ramasamy, Vijayalakshmi Perumalsamy, Shashikant Shetty, Reena Chandrashekhar, Sundaresan Periasamy

Abstract excerpt

We analyzed the sequence variation in the coding exons of PAX6 in eight unrelated south Indian pedigrees with one aniridic individual in each family. Mutations were detected by PCR, SSCP and allele-specific cloning followed by sequencing. Here we report two de novo deletion mutations, c.537delA (...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15480875
DOI: 10.1007/s10038-004-0200-1

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15480875-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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