Huyghe, Aurélia <br/><br/>
Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.  [electronic resource] 

 -  PloS one  2012 
 - e38264 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1932-6203 
<br/><br/><label>Standard No.: </label>10.1371/journal.pone.0038264  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>Biopsy<br/>Case-Control Studies<br/>Child<br/>Child, Preschool<br/>Eukaryotic Initiation Factor-2B--genetics<br/>Female<br/>Fibroblasts--metabolism<br/>Gene Expression Profiling<br/>Gene Expression Regulation<br/>Glial Fibrillary Acidic Protein--genetics<br/>Hereditary Central Nervous System Demyelinating Diseases--genetics<br/>Humans<br/>Infant<br/>Male<br/>Mutation<br/>Myelin Sheath--chemistry<br/>Oligonucleotide Array Sequence Analysis<br/>Phenotype<br/>RNA, Messenger--metabolism<br/>Transcription, Genetic