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Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations
PURPOSE: Paired box gene 6 (PAX6) heterozygous mutations are well known to cause congenital non-syndromic aniridia. These mutations produce primarily protein truncations and have been identified in approximately 40%–80% of all aniridia cases worldwide. In Mexico, there is only one previous report de...
| Autores principales: | , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2008
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2530489/ https://www.ncbi.nlm.nih.gov/pubmed/18776953 |