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

A fundamental challenge in analyzing exome-sequence data is distinguishing pathogenic mutations from background polymorphisms. To address this problem in the context of a genetically heterogeneous disease, retinitis pigmentosa (RP), we devised a candidate-gene prioritization strategy called cis-regu...

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Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3155188/
https://ncbi.nlm.nih.gov/pubmed/21835304
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.07.005
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