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The study included whole exome sequencing (WES) of a female child with SSMD, as well as both parents of a diagnosed child, described previously [12]
GSH is a tripeptide synthesized from glutamate, cysteine, and glycine in two steps catalyzed by -l-glutamyl-l-cysteine:glycine ligase and glutathione synthetase
Wang NN, Shih MC, Li N
I.ChenM.HydukS
