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Segawa syndrome caused by TH gene mutation and its mechanism.
Wang Y, Wang C, Liu M, Xu W, Wang S, Yuan F, Luo X, Xu Q, Yin R, Wang A, Guo M, Lin L, Wang C, Cheng H, Liu Z, Zhang Y, Zeng F, Yan J, Chen Y. Wang Y, et al. Among authors: xu q, xu w. Front Genet. 2022 Dec 8;13:1004307. doi: 10.3389/fgene.2022.1004307. eCollection 2022. Front Genet. 2022. PMID: 36568392 Free PMC article.
Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome.
Wang C, Luo X, Wang Y, Liu Z, Wu S, Wang S, Lan X, Xu Q, Xu W, Yuan F, Wang A, Zeng F, Jia J, Chen Y. Wang C, et al. Among authors: xu q, xu w. Intern Med. 2021 Dec 1;60(23):3721-3728. doi: 10.2169/internalmedicine.6467-20. Epub 2021 Jun 19. Intern Med. 2021. PMID: 34148947 Free PMC article.
Generation of an induced pluripotent stem cell line from an Ohtahara syndrome patient with the hemizygous mutation p.Q503Afs*28 (c.1507_1508del) in the ARX gene.
Wang C, Wang Y, Xu W, Lin X, Xi J, Wang S, Lin L, Yuan F, Wang A, Wang C, Luo X, Xu Q, Yin R, Zhang Y, Huang X, Chen Y. Wang C, et al. Among authors: xu q, xu w. Stem Cell Res. 2022 Mar;59:102621. doi: 10.1016/j.scr.2021.102621. Epub 2021 Dec 11. Stem Cell Res. 2022. PMID: 34968892 Free article.
Induced pluripotent stem cells (SHCDNi006-A cells) isolated from the peripheral blood mononuclear cells of a five-month-old Chinese girl with the heterozygous missense mutation (c.2800 G>A) in the KCNT1 gene.
Luo X, Wang Y, Yuan F, Lin L, Wang A, Wang C, Guo M, Wang S, Wang C, Xu Q, Yin R, Cheng H, Zhang Y, Liu Z, Xu W, Yan J, Zeng F, Chen Y. Luo X, et al. Among authors: xu q, xu w. Stem Cell Res. 2022 Jul;62:102798. doi: 10.1016/j.scr.2022.102798. Epub 2022 May 2. Stem Cell Res. 2022. PMID: 35537242 Free article.
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