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...

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Detalles Bibliográficos
Autores principales: Weisschuh, Nicole, Wissinger, Bernd, Gramer, Eugen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3324353/
https://www.ncbi.nlm.nih.gov/pubmed/22509105

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3324353/
https://www.ncbi.nlm.nih.gov/pubmed/22509105

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