Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
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C. Barnérias | J. Saudubray | M. Miné | M. Brivet | C. Marsac | A. Boutron | M. Zater | C. Vequaud | P. Lonlay | H. D. Baulny | Apolline Imbard | C. Barnerias