Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa-Reference-Cited by-同舟云学术

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

Published:2011-08 Issue:2 Volume:89 Page:253-264
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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4. Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79;Rehman;Am. J. Hum. Genet.,2010

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