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219,043 results

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Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.
Zhang X, Guo BR, Cai LQ, Jiang T, Sun LD, Cui Y, Hu JC, Zhu J, Chen G, Tang XF, Sun GQ, Tang HY, Liu Y, Li M, Li QB, Cheng H, Gao M, Li P, Yang X, Zuo XB, Zheng XD, Wang PG, Wang J, Wang J, Liu JJ, Yang S, Li YR, Zhang XJ. Zhang X, et al. Among authors: wang j, wang pg. J Med Genet. 2012 Dec;49(12):727-30. doi: 10.1136/jmedgenet-2012-101134. Epub 2012 Oct 25. J Med Genet. 2012. PMID: 23099647 Free PMC article.
A novel MGST2 non-synonymous mutation in a Chinese pedigree with psoriasis vulgaris.
Yan KL, Zhang XJ, Wang ZM, Yang S, Zhang GL, Wang J, Xiao FL, Gao M, Cui Y, Chen JJ, Fan X, Sun LD, Xia Q, Zhang KY, Niu ZM, Xu SJ, Tzschach A, Ropers H, Huang W, Liu JJ. Yan KL, et al. Among authors: wang j, wang zm. J Invest Dermatol. 2006 May;126(5):1003-5. doi: 10.1038/sj.jid.5700186. J Invest Dermatol. 2006. PMID: 16498398 Free article.
Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa).
Liu Y, Gao M, Lv YM, Yang X, Ren YQ, Jiang T, Zhang X, Guo BR, Li M, Zhang Q, Zhang P, Zhou FS, Chen G, Yin XY, Zuo XB, Sun LD, Zheng XD, Zhang SM, Liu JJ, Zhou Y, Li YR, Wang J, Wang J, Yang HM, Yang S, Li RQ, Zhang XJ. Liu Y, et al. Among authors: wang j. J Invest Dermatol. 2011 Jul;131(7):1570-2. doi: 10.1038/jid.2011.62. Epub 2011 Mar 24. J Invest Dermatol. 2011. PMID: 21430701 Free article. No abstract available.
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.
Zhang SQ, Jiang T, Li M, Zhang X, Ren YQ, Wei SC, Sun LD, Cheng H, Li Y, Yin XY, Hu ZM, Wang ZY, Liu Y, Guo BR, Tang HY, Tang XF, Ding YT, Wang JB, Li P, Wu BY, Wang W, Yuan XF, Hou JS, Ha WW, Wang WJ, Zhai YJ, Wang J, Qian FF, Zhou FS, Chen G, Zuo XB, Zheng XD, Sheng YJ, Gao JP, Liang B, Li P, Zhu J, Xiao FL, Wang PG, Cui Y, Li H, Liu SX, Gao M, Fan X, Shen SK, Zeng M, Sun GQ, Xu Y, Hu JC, He TT, Li YR, Yang HM, Wang J, Yu ZY, Zhang HF, Hu X, Yang K, Wang J, Zhao SX, Zhou YW, Liu JJ, Du WD, Zhang L, Xia K, Yang S, Wang J, Zhang XJ. Zhang SQ, et al. Among authors: wang w, wang zy, wang j, wang wj, wang jb, wang pg. Nat Genet. 2012 Oct;44(10):1156-60. doi: 10.1038/ng.2409. Epub 2012 Sep 16. Nat Genet. 2012. PMID: 22983302
219,043 results
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