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...

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Detalles Bibliográficos
Autores principales: Villarroel, Camilo E., Villanueva-Mendoza, Cristina, Orozco, Lorena, Alcántara-Ortigoza, Miguel Angel, Jiménez, Diana F., Ordaz, Juan C., González-del Angel, Ariadna
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2530489/
https://www.ncbi.nlm.nih.gov/pubmed/18776953

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2530489/
https://www.ncbi.nlm.nih.gov/pubmed/18776953

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