Cargando…
A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia
PURPOSE: To identify the underlying genetic cause in a two generation German family diagnosed with isolated aniridia. METHODS: All patients underwent full ophthalmic examination. Mutation screening of the paired box gene 6 (PAX6) was performed by bidirectional Sanger sequencing. A minigene assay was...
| Autores principales: | , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2012
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3324353/ https://www.ncbi.nlm.nih.gov/pubmed/22509105 |