Esmer, Carmen <br/><br/>
[Association between homozygous c.318A>GT mutation in exon 2 of the EIF2B5 gene and the infantile form of vanishing white matter leukoencephalopathy].  [electronic resource] 

 -  Boletin medico del Hospital Infantil de Mexico   
 - 364-369 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1665-1146 
<br/><br/><label>Standard No.: </label>10.1016/j.bmhimx.2017.07.002  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Child, Preschool<br/>Eukaryotic Initiation Factor-2B--genetics<br/>Exons<br/>Fatal Outcome<br/>Humans<br/>Infant<br/>Leukoencephalopathies--diagnosis<br/>Magnetic Resonance Imaging--methods<br/>Male<br/>Mutation<br/>Phenotype<br/>Tomography, X-Ray Computed--methods