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Assessment of PAX6 alleles in 66 families with aniridia
We report on PAX6 alleles associated with a clinical diagnosis of classical aniridia in 81 affected individuals representing 66 families. Allelic variants expected to affect PAX6 function were identified in 61 families (76 individuals). Ten cases of sporadic aniridia (10 families) had complete (8 ca...
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| Publicado no: | Clin Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4873406/ https://ncbi.nlm.nih.gov/pubmed/26661695 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12708 |
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