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Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease

Individuals with nonsyndromic congenital retinal nonattachment (NCRNA) are totally blind from birth. The disease afflicts ~1% of Kurdish people living in a group of neighboring villages in North Khorasan, Iran. We show NCRNA is caused by a 6523bp deletion that spans a remote cis regulatory element 2...

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Detalles Bibliográficos
Autores principales: Ghiasvand, Noor M., Rudolph, Dellaney D., Mashayekhi, Mohammad, Brzezinski, Joseph A., Goldman, Daniel, Glaser, Tom
Formato: Texto
Lenguaje:English
Publicado: 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083485/
https://www.ncbi.nlm.nih.gov/pubmed/21441919
http://dx.doi.org/10.1038/nn.2798