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Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency
Ostergaard, Elsebet; Duno, Morten; Moller, Lisbeth Birk; Kalkanoglu-Sivri, H. Serap; Dursun, Ali; Aliefendioglu, Didem; Wibrand, Flemming (Springer-Verlag Berlin, 2013)We have investigated seven patients with the type B form of pyruvate carboxylase (PC) deficiency. Mutation analysis revealed eight mutations, all novel. In a patient with exon skipping on cDNA analysis, we identified a ...