Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation

The present study investigated the clinical and mutational spectrum of aniridia in a cohort of 17 affected individuals from six families from Cyprus. Each proband was initially evaluated for copy number variants at the PAX6 locus and subsequently underwent PAX6 mutation screening. Sequence analysis...

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Detalles Bibliográficos
Autores principales: Syrimis, Andreas, Nicolaou, Nayia, Alexandrou, Angelos, Papaevripidou, Ioannis, Nicolaou, Michael, Loukianou, Eleni, Sismani, Carolina, Malas, Stavros, Christophidou-Anastasiadou, Violetta, Tanteles, George A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2018
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6072148/
https://www.ncbi.nlm.nih.gov/pubmed/29901133
http://dx.doi.org/10.3892/mmr.2018.9126

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6072148/
https://www.ncbi.nlm.nih.gov/pubmed/29901133
http://dx.doi.org/10.3892/mmr.2018.9126

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