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Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).
Richard E, Jorge-Finnigan A, Garcia-Villoria J, Merinero B, Desviat LR, Gort L, Briones P, Leal F, Pérez-Cerdá C, Ribes A, Ugarte M, Pérez B; MMACHC Working Group. Richard E, et al. Among authors: perez cerda c, perez b. Hum Mutat. 2009 Nov;30(11):1558-66. doi: 10.1002/humu.21107. Hum Mutat. 2009. PMID: 19760748
A new PKU mutation associated with haplotype 12.
Desviat LR, Pérez B, Ugarte M. Desviat LR, et al. Among authors: perez b. Hum Mol Genet. 1992 Dec;1(9):765-6. doi: 10.1093/hmg/1.9.765. Hum Mol Genet. 1992. PMID: 1363838 No abstract available.
944 results