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Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotype
PURPOSE: To describe the clinical and genetic findings in two Chinese families with aniridia and other ocular abnormalities. METHODS: Two unrelated families were examined clinically. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. Mutation sc...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Molecular Vision
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3044699/ https://ncbi.nlm.nih.gov/pubmed/21364908 |
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