Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa

  • Rza 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
  • , Anneke I. Den Hollander
  • , Joseph C. Corbo

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Biochemistry, Genetics and Molecular Biology