Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families

The aim of this study was to identify the genetic defect that is responsible for aniridia and congenital cataracts in two Tunisian families. Sequencing of the PAX6 gene in family F1 detected a novel c.265C>T transition in exon 6. In family F2, the previously described c.718C>T mutation in PAX6...

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Detalles Bibliográficos
Autores principales: Chograni, Manèl, Derouiche, Kaouther, Chaabouni, Myriam, Lariani, Imen, Bouhamed, Habiba Chaabouni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785518/
https://www.ncbi.nlm.nih.gov/pubmed/27081502
http://dx.doi.org/10.1038/hgv.2014.8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785518/
https://www.ncbi.nlm.nih.gov/pubmed/27081502
http://dx.doi.org/10.1038/hgv.2014.8

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