Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency. [electronic resource]
Producer: 20090730Description: 734-40 p. digitalISSN:- 1098-1004
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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