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PAX6 mutations: genotype-phenotype correlations
BACKGROUND: The PAX6 protein is a highly conserved transcriptional regulator that is important for normal ocular and neural development. In humans, heterozygous mutations of the PAX6 gene cause aniridia (absence of the iris) and related developmental eye diseases. PAX6 mutations are archived in the...
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| Main Authors: | , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BioMed Central
2005
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1156885/ https://ncbi.nlm.nih.gov/pubmed/15918896 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2156-6-27 |
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