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Penetrance of eye defects in mice heterozygous for mutation of Gli3 is enhanced by heterozygous mutation of Pax6

BACKGROUND: Knowledge of the consequences of heterozygous mutations of developmentally important genes is important for understanding human genetic disorders. The Gli3 gene encodes a zinc finger transcription factor and homozygous loss-of-function mutations of Gli3 are lethal. Humans heterozygous fo...

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Detalles Bibliográficos
Autores principales: Zaki, Paulette A, Collinson, J Martin, Toraiwa, Junko, Simpson, T Ian, Price, David J, Quinn, Jane C
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1618390/
https://www.ncbi.nlm.nih.gov/pubmed/17029624
http://dx.doi.org/10.1186/1471-213X-6-46