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Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, 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, Anneke I. den Hollander, Joseph C. Corbo The American Journal of Human Genetics Volume 89, Issue 2, Pages 253-264 (August 2011) DOI: 10.1016/j.ajhg.2011.07.005 Copyright © 2011 The American Society of Human Genetics Terms and Conditions

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Page 1: Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, 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,

Anneke I. den Hollander, Joseph C. Corbo 

The American Journal of Human Genetics Volume 89, Issue 2, Pages 253-264 (August 2011)

DOI: 10.1016/j.ajhg.2011.07.005

Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Page 2: Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

Figure 1

The American Journal of Human Genetics 2011 89, 253-264DOI: (10.1016/j.ajhg.2011.07.005) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Page 3: Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

Figure 2

The American Journal of Human Genetics 2011 89, 253-264DOI: (10.1016/j.ajhg.2011.07.005) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Page 4: Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

Figure 3

The American Journal of Human Genetics 2011 89, 253-264DOI: (10.1016/j.ajhg.2011.07.005) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Page 5: Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

Figure 4

The American Journal of Human Genetics 2011 89, 253-264DOI: (10.1016/j.ajhg.2011.07.005) Copyright © 2011 The American Society of Human Genetics Terms and Conditions