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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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Main Authors: Aggarwal, Shagun, Jinda, Worapoj, Limwongse, Chanin, Atchaneeyasakul, La-ongsri, Phadke, Shubha R.
格式: Artigo
語言:Inglês
出版: Molecular Vision 2011
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3103739/
https://ncbi.nlm.nih.gov/pubmed/21633710
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