PMC Links for Nucleotide (Select 217272809) - PMC

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Items: 4

Select item 70584311.

A two-step method for identifying photopigment opsin and rhodopsin gene sequences underlying human color vision phenotypes

Shari R. Atilano, M. Cristina Kenney, Adriana D. Briscoe, Kimberly A. Jameson

Mol Vis. 2020; 26: 158–172. Published online 2020 Mar 5.

PMCID:: PMC7058431

Abstract Article PDF–2.4M

Select item 50958852.

The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family

Charlotte Reiff, Marta Owczarek-Lipska, Georg Spital, Carsten Röger, Hebke Hinz, Christoph Jüschke, Holger Thiele, Janine Altmüller, Peter Nürnberg, Romain Da Costa, John Neidhardt

Sci Rep. 2016; 6: 36208. Published online 2016 Nov 4. doi: 10.1038/srep36208

PMCID:: PMC5095885

Abstract Article PDF–1.8M

Select item 45390153.

New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3′-UTR, deleting exon 5 of RHO, and causing adRP

Miguel de Sousa Dias, Imma Hernan, Barbara Delás, Beatriz Pascual, Emma Borràs, Maria José Gamundi, Begoña Mañé, Patricia Fernández-San José, Carmen Ayuso, Miguel Carballo

Mol Vis. 2015; 21: 857–870. Published online 2015 Aug 18.

PMCID:: PMC4539015

Abstract Article PDF–949K

Select item 33650694.

Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa

Yun Wang, Liheng Guo, Su-Ping Cai, Meizhi Dai, Qiaona Yang, Wenhan Yu, Naihong Yan, Xiaomin Zhou, Jin Fu, Xinwu Guo, Pengfei Han, Jun Wang, Xuyang Liu

PLoS One. 2012; 7(5): e33673. Published online 2012 May 31. doi: 10.1371/journal.pone.0033673