TY  - GEN
AU  - Boutron,Audrey
AU  - Marabotti,Anna
AU  - Facchiano,Angelo
AU  - Cheillan,David
AU  - Zater,Mokhtar
AU  - Oliveira,Christophe
AU  - Costa,Catherine
AU  - Labrune,Philippe
AU  - Brivet,Michèle
TI  - Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations
SN  - 1096-7206
PY  - 2013///0327
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - Cohort Studies
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Female
KW  - France
KW  - epidemiology
KW  - Galactosemias
KW  - genetics
KW  - Humans
KW  - Infant
KW  - Introns
KW  - Male
KW  - Middle Aged
KW  - Molecular Docking Simulation
KW  - Mutation
KW  - Phenotype
KW  - Protein Stability
KW  - Protein Subunits
KW  - deficiency
KW  - UTP-Hexose-1-Phosphate Uridylyltransferase
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ymgme.2012.07.025
ER  -