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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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| Publicado en: | Hum Genome Var |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Nature Publishing Group
2014
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4785518/ https://ncbi.nlm.nih.gov/pubmed/27081502 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2014.8 |
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