Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

M Chiara Manzini, Dimira E Tambunan, R Sean Hill, Tim W Yu, Thomas M Maynard, Erin L Heinzen, Kevin V Shianna, Christine R Stevens, Jennifer N Partlow, Brenda J Barry, Jacqueline Rodriguez, Vandana A Gupta, Abdel-Karim Al-Qudah, Wafaa M Eyaid, Jan M Friedman, Mustafa A Salih, Robin Clark, Isabella Moroni, Marina Mora, Alan H Beggs, Stacey B Gabriel, Christopher A Walsh
Am. J. Hum. Genet. Sep 7, 2012
… both during fetal development and in the adult. cDNA samples from postmortem fetal and adult human tissues were obtained commercially (BioChain Institute and Clontech). qPCR was performed with SYBR Green reagents …

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