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Hum Mutat. 1998;12(2):128-34.

A new set of primers for mutation analysis of the human PAX6 gene.

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1
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.

Abstract

Mutations in the human PAX6 gene are an important cause of dominantly inherited congenital malformations of the eye, including aniridia, Peters' anomaly, keratitis, and isolated foveal hypoplasia. To satisfy the need for efficient detection of PAX6 mutations, we have developed a new set of oligonucleotides for genomic SSCP based on the recently completed genomic sequence of the entire human PAX6 gene. We also describe PAX6 mutations in eight aniridia patients, five of which are novel.

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