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The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.
Twelve aniridia patients, five with a family history and seven presumed to be sporadic, were exhaustively screened in order to test what proportion of people with aniridia, uncomplicated by associated anomalies, carry mutations in the human PAX6 gene. Mutations were detected in 90% of the cases. Thr...
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| Main Authors: | , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
1997
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1050912/ https://ncbi.nlm.nih.gov/pubmed/9138149 |
| Oznake: |
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