PMC Links for Protein (Select 635172842) - PMC

Select item 63636371.

Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa

Xiaoqiang Xiao, Yingjie Cao, Shaowan Chen, Min Chen, Xiaoting Mai, Yuqian Zheng, Xi Zhuang, Tsz Kin Ng, Haoyu Chen

Mol Vis. 2019; 25: 35–46. Published online 2019 Jan 20.

PMCID:: PMC6363637

Select item 62028412.

The manner of decay of genetically defective EYS gene transcripts in photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients depends on the type of mutation

Yuko Seko, Masaki Iwanami, Kiyoko Miyamoto-Matsui, Shimpei Takita, Noriyuki Aoi, Akihiro Umezawa, Seishi Kato

Stem Cell Res Ther. 2018; 9: 279. Published online 2018 Oct 25. doi: 10.1186/s13287-018-1016-9

PMCID:: PMC6202841

Abstract Article PDF–1.2M

Select item 26891543.

Large-scale Molecular Analysis of a 34 Mb Interval on Chromosome 6q: Major Refinement of the RP25 Interval

M. M. Abd El-Aziz, I. Barragan, C. O’Driscoll, S. Borrego, L. Abu-Safieh, J. I. Pieras, M. F. El-Ashry, E. Prigmore, N. Carter, G. Antinolo, S. S. Bhattacharya

Ann Hum Genet. Author manuscript; available in PMC 2009 Jun 1.

Published in final edited form as: Ann Hum Genet. 2008 Jul; 72(Pt 4): 463–477. Published online 2007 May 29. doi: 10.1111/j.1469-1809.2008.00455.x

PMCID:: PMC2689154

Abstract Article PDF–617K

Select item 26680424.

Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa

Rob W.J. Collin, Karin W. Littink, B. Jeroen Klevering, L. Ingeborgh van den Born, Robert K. Koenekoop, Marijke N. Zonneveld, Ellen A.W. Blokland, Tim M. Strom, Carel B. Hoyng, Anneke I. den Hollander, Frans P.M. Cremers

Am J Hum Genet. 2008 Nov 17; 83(5): 594–603. doi: 10.1016/j.ajhg.2008.10.014