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Genotype–phenotype correlation of PAX6 gene mutations in aniridia
The objective of this study was to investigate the genotype–phenotype correlation of the PAX6 gene in aniridia. We clinically examined 5 families and 16 sporadic patients with aniridia. We performed chromosomal analysis and PCR analysis of the PAX6 gene using patient genomic DNA. Chromosomal analysi...
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| Publicat a: | Hum Genome Var |
|---|---|
| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group
2016
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4760117/ https://ncbi.nlm.nih.gov/pubmed/27081561 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.52 |
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