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Loss of function of CMPK2 causes mitochondria deficiency and brain calcification.
Zhao M, Su HZ, Zeng YH, Sun Y, Guo XX, Li YL, Wang C, Zhao ZY, Huang XJ, Lin KJ, Ye ZL, Lin BW, Hong S, Zheng J, Liu YB, Yao XP, Yang D, Lu YQ, Chen HZ, Zuo E, Yang G, Wang HT, Huang CW, Lin XH, Cen Z, Lai LL, Zhang YK, Li X, Lai T, Lin J, Zuo DD, Lin MT, Liou CW, Kong QX, Yan CZ, Xiong ZQ, Wang N, Luo W, Zhao CP, Cheng X, Chen WJ. Zhao M, et al. Among authors: wang ht, wang n, wang c. Cell Discov. 2022 Nov 29;8(1):128. doi: 10.1038/s41421-022-00475-2. Cell Discov. 2022. PMID: 36443312 Free PMC article.
Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.
Yao XP, Cheng X, Wang C, Zhao M, Guo XX, Su HZ, Lai LL, Zou XH, Chen XJ, Zhao Y, Dong EL, Lu YQ, Wu S, Li X, Fan G, Yu H, Xu J, Wang N, Xiong ZQ, Chen WJ. Yao XP, et al. Among authors: wang n, wang c. Neuron. 2018 Jun 27;98(6):1116-1123.e5. doi: 10.1016/j.neuron.2018.05.037. Epub 2018 Jun 14. Neuron. 2018. PMID: 29910000 Free article.
Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.
Guo XX, Zou XH, Wang C, Yao XP, Su HZ, Lai LL, Chen HT, Lai JH, Liu YB, Chen DP, Deng YC, Lin P, Lin HS, Hong BC, Yao QY, Chen XJ, Huang DQ, Fu HX, Peng JD, Niu YF, Zhao YY, Zhu XQ, Lu XP, Lin HL, Li YK, Liu CY, Huang GB, Wang N, Chen WJ. Guo XX, et al. Among authors: wang n, wang c. Hum Mutat. 2019 Apr;40(4):392-403. doi: 10.1002/humu.23703. Epub 2019 Jan 15. Hum Mutat. 2019. PMID: 30609140
101,655 results
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