<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. <...
Furkejuvvon:
| Váldodahkkit: | , , |
|---|---|
| Materiálatiipa: | Artigo |
| Giella: | Inglês |
| Almmustuhtton: |
BMC
2005-05-01
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| Ráidu: | BMC Genetics |
| Liŋkkat: | http://www.biomedcentral.com/1471-2156/6/27 |
| Fáddágilkorat: |
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