Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

Monnot, Sophie

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency. [electronic resource] - Human mutation May 2009 - 734-40 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.20908 doi


Amino Acid Sequence
Base Sequence
Computational Biology
DNA Mutational Analysis
Humans
Infant
Infant, Newborn
Molecular Sequence Data
Mutation--genetics
Mutation, Missense--genetics
Protein Structure, Secondary
Pyruvate Carboxylase--chemistry
Pyruvate Carboxylase Deficiency Disease--enzymology
RNA Splice Sites--genetics
Sequence Alignment