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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: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Molecular Vision
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3103739/ https://ncbi.nlm.nih.gov/pubmed/21633710 |
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