Article
Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.
Clinical genetics - 1 Mar 2018
Agolini E, Dentici M L, Bellacchio E, Alesi V, Radio F C, Torella A, Musacchia F, Tartaglia M, Dallapiccola B, Nigro V, Digilio M C, Novelli A
Abstract excerpt
Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyze the transfer of methyl groups from S-adenosyl-l-methionine to nitrogen atoms on arginine residues. Arginine methylation is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, 7 patients have been described...
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