Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH. [electronic resource]
- Human mutation Apr 2003
- 370-8 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.10198 doi
Amino Acid Substitution--genetics Animals COS Cells Cell Line Chlorocebus aethiops Computational Biology--methods Computer Simulation Escherichia coli--enzymology Gene Expression Regulation, Enzymologic--genetics Genotype Humans Mice Mutation Phenotype Phenylalanine Hydroxylase--chemistry Phenylketonurias--enzymology Protein Folding Protein Structure, Quaternary--genetics Rats Recombinant Fusion Proteins--chemistry Structure-Activity Relationship