<it>PAX6 </it>mutations: genotype-phenotype correlations
<p>Abstract</p> <p>Background</p> <p>The PAX6 protein is a highly conserved transcriptional regulator that is important for normal ocular and neural development. In humans, heterozygous mutations of the <it>PAX6 </it>gene cause aniridia (absence of the iris)...
| Auteurs principaux: | , , |
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| Format: | Article |
| Langue: | English |
| Publié: |
BMC
2005-05-01
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| Collection: | BMC Genetics |
| Accès en ligne: | http://www.biomedcentral.com/1471-2156/6/27 |