Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia

PURPOSE: To identify the causative paired box 6 (PAX6) mutation in a family with autosomal dominant aniridia. METHODS: A family with autosomal dominant aniridia with three affected individuals in two generations was investigated for the causative PAX6 mutation by single strand conformation polymorph...

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Detalles Bibliográficos
Autores principales: Aggarwal, Shagun, Jinda, Worapoj, Limwongse, Chanin, Atchaneeyasakul, La-ongsri, Phadke, Shubha R.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3103739/
https://www.ncbi.nlm.nih.gov/pubmed/21633710

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3103739/
https://www.ncbi.nlm.nih.gov/pubmed/21633710

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