CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.
Durand, Christelle M
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. [electronic resource] - Human mutation 01 2018 - 140-151 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.23359 doi
Alleles
Amino Acid Substitution
Cytochrome P450 Family 2--chemistry
DNA Mutational Analysis
Enzyme Activation
Gene Expression
Genetic Association Studies
HEK293 Cells
Humans
Models, Molecular
Mutation, Missense
Oxidation-Reduction
Phenotype
Protein Conformation
Spastic Paraplegia, Hereditary--diagnosis
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. [electronic resource] - Human mutation 01 2018 - 140-151 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.23359 doi
Alleles
Amino Acid Substitution
Cytochrome P450 Family 2--chemistry
DNA Mutational Analysis
Enzyme Activation
Gene Expression
Genetic Association Studies
HEK293 Cells
Humans
Models, Molecular
Mutation, Missense
Oxidation-Reduction
Phenotype
Protein Conformation
Spastic Paraplegia, Hereditary--diagnosis