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Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients.
Liu MY, Liu TT, Yang YL, Chang YC, Fan YL, Lee SF, Teng YT, Chiang SH, Niu DM, Lin SJ, Chao MC, Lin SP, Han LS, Qi Y, Hsiao KJ. Liu MY, et al. Among authors: han ls. JIMD Rep. 2012;6:55-64. doi: 10.1007/8904_2011_117. Epub 2012 Jan 31. JIMD Rep. 2012. PMID: 23430940 Free PMC article.
[Gene mutation analysis in patients with propionic acidemia].
Hu YH, Han LS, Ye J, Qiu WJ, Zhang YF, Yang YL, Liu L, Ma HW, Gao XL, Gu XF. Hu YH, et al. Among authors: han ls. Zhonghua Er Ke Za Zhi. 2008 Jun;46(6):416-20. Zhonghua Er Ke Za Zhi. 2008. PMID: 19099776 Chinese.
Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.
Yu Y, Shuai R, Liang L, Qiu W, Shen L, Wu S, Wei H, Chen Y, Yang C, Xu P, Chen X, Zou H, Feng J, Niu T, Hu H, Ye J, Zhang H, Lu D, Gong Z, Zhan X, Ji W, Gu X, Han L. Yu Y, et al. Mol Genet Genomic Med. 2021 Nov;9(11):e1822. doi: 10.1002/mgg3.1822. Epub 2021 Oct 20. Mol Genet Genomic Med. 2021. PMID: 34668645 Free PMC article.
A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.
Liang L, Shuai R, Yu Y, Qiu W, Shen L, Wu S, Wei H, Chen Y, Yang C, Xu P, Chen X, Zou H, Feng J, Niu T, Hu H, Ye J, Zhang H, Lu D, Gong Z, Zhan X, Ji W, Yu Y, Gu X, Han L. Liang L, et al. Orphanet J Rare Dis. 2021 Jan 7;16(1):22. doi: 10.1186/s13023-020-01632-0. Orphanet J Rare Dis. 2021. PMID: 33413471 Free PMC article.
109 results