Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa
Titel:
Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa
Auteur:
Özgül, Rıza Köksal Siemiatkowska, Anna M. Yücel, Didem Myers, Connie A. Collin, Rob W.J. Zonneveld, Marijke N. Beryozkin, Avigail Banin, Eyal Hoyng, Carel B. van den Born, L. Ingeborgh Bose, Ron Shen, Wei Sharon, Dror Cremers, Frans P.M. Klevering, B. Jeroen den Hollander, Anneke I. Corbo, Joseph C.