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Identification of a novel PAX6 mutation in a Chinese family with aniridia
BACKGROUND: This study aims to investigate the clinical characterization and causative genetic defect of a four-generation Chinese family with autosomal dominant aniridia. METHODS: The recruited family members underwent comprehensive routine and ophthalmic examinations, and Sanger sequencing was per...
Gespeichert in:
| Veröffentlicht in: | BMC Ophthalmol |
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| Hauptverfasser: | , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2019
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6325832/ https://ncbi.nlm.nih.gov/pubmed/30621664 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-018-1009-6 |
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