Exome Sequencing andcis-Regulatory Mapping Identify Mutations inMAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa


Rıza Köksal Özgül,Anna M. Siemiatkowska,Didem Yücel,Connie A. Myers,Rob W.J. Collin,Marijke N. Zonneveld,Avigail Beryozkin,Eyal Banin,Carel B. Hoyng,L. Ingeborgh van den Born,Ron Bose,Wei Shen,Dror Sharon,Frans P.M. Cremers,B. Jeroen Klevering, et al.


The American Journal of Human Genetics




12 August 2011

Copyright © 2011, Elsevier

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