Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

The atonal homolog 7 (ATOH7) gene encodes a transcription factor involved in determining the fate of retinal progenitor cells and is particularly required for optic nerve and ganglion cell development. Using a combination of autozygosity mapping and next generation sequencing, we have identified hom...

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Main Authors: Khan, Kamron, Logan, Clare V., McKibbin, Martin, Sheridan, Eamonn, Elçioglu, Nursel H., Yenice, Ozlem, Parry, David A., Fernandez-Fuentes, Narcis, Abdelhamed, Zakia I.A., Al-Maskari, Ahmed, Poulter, James A., Mohamed, Moin D., Carr, Ian M., Morgan, Joanne E., Jafri, Hussain, Raashid, Yasmin, Taylor, Graham R., Johnson, Colin A., Inglehearn, Chris F., Toomes, Carmel, Ali, Manir
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2012
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3263993/
https://ncbi.nlm.nih.gov/pubmed/22068589
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr509
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