Boutron, Audrey <br/><br/>
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 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1096-7206 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2012.07.025  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Child<br/>Child, Preschool<br/>Cohort Studies<br/>DNA Mutational Analysis<br/>Exons<br/>Female<br/>France--epidemiology<br/>Galactosemias--genetics<br/>Humans<br/>Infant<br/>Introns<br/>Male<br/>Middle Aged<br/>Molecular Docking Simulation<br/>Mutation<br/>Phenotype<br/>Protein Stability<br/>Protein Subunits--deficiency<br/>UTP-Hexose-1-Phosphate Uridylyltransferase--deficiency