PMC Links for Nucleotide (Select 1512432704) - PMC - NCBI

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Items: 5

Select item 67426461.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 63553162.

Natural History Study of Retinal Structure, Progression, and Symmetry Using Ellipzoid Zone Metrics in RPGR-Associated Retinopathy

James J.L. Tee, Yesa Yang, Angelos Kalitzeos, Andrew Webster, James Bainbridge, Michel Michaelides

Am J Ophthalmol. 2019 Feb; 198: 111–123. doi: 10.1016/j.ajo.2018.10.003

PMCID:: PMC6355316

Abstract Article PDF–1.1M

Select item 62035753.

Novel splice receptor-site mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa

Jing Wang, Cong Zhou, Yuanyuan Xiao, Hongqian Liu

Medicine (Baltimore) 2018 Oct; 97(41): e12779. Published online 2018 Oct 12. doi: 10.1097/MD.0000000000012779

PMCID:: PMC6203575

Abstract Article PDF–399K

Select item 18012454.

X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11.

R E McGuire, L S Sullivan, S H Blanton, M W Church, J R Heckenlively, S P Daiger

Am J Hum Genet. 1995 Jul; 57(1): 87–94.

PMCID:: PMC1801245

Summary Page Browse PDF–1.0M

Select item 533335.

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests.

J Ott, S Bhattacharya, J D Chen, M J Denton, J Donald, C Dubay, G J Farrar, G A Fishman, D Frey, A Gal, et al.

Proc Natl Acad Sci U S A. 1990 Jan; 87(2): 701–704. doi: 10.1073/pnas.87.2.701

PMCID:: PMC53333

Summary Page Browse PDF–766K

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