Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Alanis Lima"'
Autor:
Di Huang, Jennifer A. Thompson, Shang-Chih Chen, Abbie Adams, Ianthe Pitout, Alanis Lima, Dan Zhang, Rachael C. Heath Jeffery, Mary S. Attia, Terri L. McLaren, Tina M. Lamey, John N. De Roach, Samuel McLenachan, May Thandar Aung-Htut, Sue Fletcher, Steve D. Wilton, Fred K. Chen
Publikováno v:
SSRN Electronic Journal.
The ATP-binding cassette subfamily A member 4 gene (ABCA4)-associated retinopathy, Stargardt disease, is the most common monogenic inherited retinal disease. Given the pathogenicity of numerous ABCA4 variants is yet to be examined and a significant p
Autor:
Zhiqin Huang, Dan Zhang, Jennifer A. Thompson, Alanis Lima, Shang Chih Chen, Tina M. Lamey, Sue Fletcher, Sang Yoon Moon, Mary S. Attia, Xiao Zhang, Khine Zaw, Janya Grainok, John N. De Roach, Terri L. McLaren, Fred K. Chen, Luke Jennings, Danial Roshandel, Samuel McLenachan, Rachael C. Heath Jeffery
Publikováno v:
Genes
Volume 12
Issue 10
Genes, Vol 12, Iss 1542, p 1542 (2021)
Volume 12
Issue 10
Genes, Vol 12, Iss 1542, p 1542 (2021)
Retinitis pigmentosa 11 (RP11) is caused by dominant mutations in PRPF31, however a significant proportion of mutation carriers do not develop retinopathy. Here, we investigated the relationship between CNOT3 polymorphism, MSR1 repeat copy number and