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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Mol Med Rep
Päätekijät: Syrimis, Andreas, Nicolaou, Nayia, Alexandrou, Angelos, Papaevripidou, Ioannis, Nicolaou, Michael, Loukianou, Eleni, Sismani, Carolina, Malas, Stavros, Christophidou-Anastasiadou, Violetta, Tanteles, George A.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: D.A. Spandidos 2018
Aiheet:
Articles
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6072148/
https://ncbi.nlm.nih.gov/pubmed/29901133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2018.9126
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