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Three novel PAX6 mutations in patients with aniridia
Aims: To describe mutations in the PAX6 gene in five patients with aniridia from three unrelated families. Methods: The PAX6 gene was analysed using single stranded conformational polymorphism analysis and direct sequencing. Results: In one family, three individuals from two generations had aniridia...
Tallennettuna:
| Päätekijät: | , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
British Medical Journal Publishing Group
2003
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1187315/ https://ncbi.nlm.nih.gov/pubmed/12782766 |
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