<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) and related developmental eye diseases. <...
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| Hlavní autoři: | , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BMC
2005-05-01
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| Edice: | BMC Genetics |
| On-line přístup: | http://www.biomedcentral.com/1471-2156/6/27 |
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