Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.
Boutron, Audrey
Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations. [electronic resource] - Molecular genetics and metabolism Nov 2012 - 438-47 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1096-7206
10.1016/j.ymgme.2012.07.025 doi
Adolescent
Adult
Child
Child, Preschool
Cohort Studies
DNA Mutational Analysis
Exons
Female
France--epidemiology
Galactosemias--genetics
Humans
Infant
Introns
Male
Middle Aged
Molecular Docking Simulation
Mutation
Phenotype
Protein Stability
Protein Subunits--deficiency
UTP-Hexose-1-Phosphate Uridylyltransferase--deficiency
Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations. [electronic resource] - Molecular genetics and metabolism Nov 2012 - 438-47 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1096-7206
10.1016/j.ymgme.2012.07.025 doi
Adolescent
Adult
Child
Child, Preschool
Cohort Studies
DNA Mutational Analysis
Exons
Female
France--epidemiology
Galactosemias--genetics
Humans
Infant
Introns
Male
Middle Aged
Molecular Docking Simulation
Mutation
Phenotype
Protein Stability
Protein Subunits--deficiency
UTP-Hexose-1-Phosphate Uridylyltransferase--deficiency