A new PAX6 mutation in familial aniridia. Issue 6 (June 1995)

• Record Type: Journal Article
• Authors: Hanson, I; Brown, A; van Heyningen, V
• Is Part Of: Journal of medical genetics. Volume 32:Issue 6(1995)
• Page Start: 488
• Page End: 489
• Publication Date: 1995-06
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.32.6.488
• Languages: English
• ISSNs: 1468-6244

Abstract

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.