A new PAX6 mutation in familial aniridia.
AUTOR(ES)
Hanson, I
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1050493Documentos Relacionados
- PAX6 gene variations associated with aniridia in south India
- The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.
- 3′ deletions cause aniridia by preventing PAX6 gene expression
- The Human PAX6 Mutation Database.
- Mutations and polymorphisms analysis in PAX6 gene of patients with Aniridia and Morning Glory Syndrome