Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases.
He R, Mo R, Shen M, Kang L, Song J, Liu Y, Chen Z, Zhang H, Yao H, Liu Y, Zhang Y, Dong H, Jin Y, Li M, Qin J, Zheng H, Chen Y, Li D, Wei H, Li X, Zhang H, Huang M, Zhang C, Jiang Y, Liang D, Tian Y, Yang Y.
He R, et al. Among authors: shen m.
Orphanet J Rare Dis. 2020 Aug 3;15(1):200. doi: 10.1186/s13023-020-01485-7.
Orphanet J Rare Dis. 2020.
PMID: 32746869
Free PMC article.