Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
2012; Elsevier BV; Volume: 91; Issue: 3 Linguagem: Inglês
10.1016/j.ajhg.2012.07.009
ISSN1537-6605
AutoresM. Chiara Manzini, Dimira Tambunan, R. Sean Hill, Timothy W. Yu, Thomas M. Maynard, Erin L. Heinzen, Kevin V. Shianna, Christine Stevens, Jennifer N. Partlow, Brenda J. Barry, Jacqueline Rodriguez, Vandana Gupta, Abdelkarim A. Al-Qudah, Wafaa Eyaid, Jan M. Friedman, Mustafa A. Salih, Robin D. Clark, Isabella Moroni, Marina Mora, Alan H. Beggs, Stacey Gabriel, Christopher A. Walsh,
Tópico(s)Physiological and biochemical adaptations
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