PMC Links for Nucleotide (Select 1796787040) - PMC

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Items: 5

Select item 62362991.

Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole-exome sequencing

Yue-Chuan Fu, Na Chen, Zi-Long Qiu, Lin Liu, Jie Shen

Mol Med Rep. 2018 Dec; 18(6): 5016–5022. Published online 2018 Oct 2. doi: 10.3892/mmr.2018.9530

PMCID:: PMC6236299

Abstract Article PDF–1.8M

Select item 18386162.

Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells

Xiaoqing Liu, Oleg V. Bulgakov, Keith N. Darrow, Basil Pawlyk, Michael Adamian, M. Charles Liberman, Tiansen Li

Proc Natl Acad Sci U S A. 2007 Mar 13; 104(11): 4413–4418. Published online 2007 Mar 5. doi: 10.1073/pnas.0610950104

PMCID:: PMC1838616

Abstract Article PDF–2.4M

Select item 12881873.

Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa

M. D. Weston, J. D. Eudy, S. Fujita, S.-F. Yao, S. Usami, C. Cremers, J. Greenburg, R. Ramesar, A. Martini, C. Moller, R. J. Smith, J. Sumegi, William J. Kimberling

Am J Hum Genet. 2000 Apr; 66(4): 1199–1210. Published online 2000 Mar 22. doi: 10.1086/302855

Correction in:: Am J Hum Genet, volume 66 on page 2020

PMCID:: PMC1288187

Abstract Article PDF–944K

Select item 11819504.

Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type II

Erwin van Wijk, Ronald J. E. Pennings, Heleen te Brinke, Annemarie Claassen, Helger G. Yntema, Lies H. Hoefsloot, Frans P. M. Cremers, Cor. W. R. J. Cremers, Hannie Kremer

Am J Hum Genet. 2004 Apr; 74(4): 738–744. Published online 2004 Mar 10. doi: 10.1086/383096