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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Detalles Bibliográficos
Autores principales: Tzoulaki, Ioanna, White, Ian MS, Hanson, Isabel M
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2005
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1156885/
https://www.ncbi.nlm.nih.gov/pubmed/15918896
http://dx.doi.org/10.1186/1471-2156-6-27

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1156885/
https://www.ncbi.nlm.nih.gov/pubmed/15918896
http://dx.doi.org/10.1186/1471-2156-6-27

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