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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Mol Med Rep |
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| Κύριοι συγγραφείς: | , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
D.A. Spandidos
2018
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| Θέματα: | |
| Διαθέσιμο Online: | 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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