PMC Links for Nucleotide (Select 1676320090) - 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

PMCID:: PMC2668042

Abstract Article PDF–537K

Select item 13779585.

Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin.

S Khaliq, A Hameed, M Ismail, S Q Mehdi, D A Bessant, A M Payne, S S Bhattacharya

Am J Hum Genet. 1999 Aug; 65(2): 571–574. doi: 10.1086/302493

PMCID:: PMC1377958

Summary PDF–896K

Select item 13771456.

A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters.

A Ruiz, S Borrego, I Marcos, G Antiñolo

Am J Hum Genet. 1998 Jun; 62(6): 1452–1459. doi: 10.1086/301866

PMCID:: PMC1377145

Summary PDF–603K

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