TY - GEN AU - Monnot,Sophie AU - Serre,Valérie AU - Chadefaux-Vekemans,Bernadette AU - Aupetit,Joelle AU - Romano,Stéphane AU - De Lonlay,Pascale AU - Rival,Jean-Marie AU - Munnich,Arnold AU - Steffann,Julie AU - Bonnefont,Jean-Paul TI - Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency SN - 1098-1004 PY - 2009///0730 KW - Amino Acid Sequence KW - Base Sequence KW - Computational Biology KW - DNA Mutational Analysis KW - Humans KW - Infant KW - Infant, Newborn KW - Molecular Sequence Data KW - Mutation KW - genetics KW - Mutation, Missense KW - Protein Structure, Secondary KW - Pyruvate Carboxylase KW - chemistry KW - Pyruvate Carboxylase Deficiency Disease KW - enzymology KW - RNA Splice Sites KW - Sequence Alignment N1 - Publication Type: Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1002/humu.20908 ER -