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SLC7A14 linked to autosomal recessive retinitis pigmentosa.
Jin ZB, Huang XF, Lv JN, Xiang L, Li DQ, Chen J, Huang C, Wu J, Lu F, Qu J. Jin ZB, et al. Among authors: lu f. Nat Commun. 2014 Mar 27;5:3517. doi: 10.1038/ncomms4517. Nat Commun. 2014. PMID: 24670872 Free PMC article.
REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.
Veleri S, Nellissery J, Mishra B, Manjunath SH, Brooks MJ, Dong L, Nagashima K, Qian H, Gao C, Sergeev YV, Huang XF, Qu J, Lu F, Cideciyan AV, Li T, Jin ZB, Fariss RN, Ratnapriya R, Jacobson SG, Swaroop A. Veleri S, et al. Among authors: lu f. Hum Mol Genet. 2017 Jun 15;26(12):2218-2230. doi: 10.1093/hmg/ddx111. Hum Mol Genet. 2017. PMID: 28369466 Free PMC article.
Trio-based exome sequencing arrests de novo mutations in early-onset high myopia.
Jin ZB, Wu J, Huang XF, Feng CY, Cai XB, Mao JY, Xiang L, Wu KC, Xiao X, Kloss BA, Li Z, Liu Z, Huang S, Shen M, Cheng FF, Cheng XW, Zheng ZL, Chen X, Zhuang W, Zhang Q, Young TL, Xie T, Lu F, Qu J. Jin ZB, et al. Among authors: lu f. Proc Natl Acad Sci U S A. 2017 Apr 18;114(16):4219-4224. doi: 10.1073/pnas.1615970114. Epub 2017 Apr 3. Proc Natl Acad Sci U S A. 2017. PMID: 28373534 Free PMC article.
7,292 results