A new PAX6 mutation in familial aniridia.
case_report · Level V
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- Record sourced from PubMed, PMID 7666404.
- Also identified by PMC identifier 1050493.
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Abstract
Aniridia (lack of iris) is caused by loss of function mutations in one copy of the PAX6 gene. Here we present a new PAX6 splice mutation in a family with autosomal dominant aniridia. The mutation is a single nucleotide change which, although occurring within an exon, affects the splice junction consensus and results in skipping of that exon.
Medical subject headings
- Aniridia
- DNA-Binding Proteins
- Homeodomain Proteins
- Point Mutation