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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: Tzoulaki, Ioanna, White, Ian MS, Hanson, Isabel M
格式: Artigo
語言:Inglês
出版: BioMed Central 2005
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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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