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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.

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Description scientific article
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author: Marijke I Zonneveld  Jeroen Klevering  Joseph C. Corbo  Riza Koksal Ozgul  Anneke den Hollander  Carel B Hoyng  L Ingeborgh van den Born  Dror Sharon 

Publication date August 1, 2011
Language English
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