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[Association between homozygous c.318A>GT mutation in exon 2 of the EIF2B5 gene and the infantile form of vanishing white matter leukoencephalopathy]. / Asociación entre la mutación homocigota c.318A>T en el exón 2 del gen EIF2B5 y la forma infantil de la leucoencefalopatía con sustancia blanca evanescente.
Esmer, Carmen; Blanco Hernández, Gabriela; Saavedra Alanís, Víctor; Reyes Vaca, Jorge Guillermo; Bravo Oro, Antonio.
Affiliation
  • Esmer C; Departamento de Genética, Hospital Central Dr. Ignacio Morones Prieto, San Luis Potosí, San Luis Potosí, México.
  • Blanco Hernández G; Departamento de Neuropediatría, Hospital Central Dr. Ignacio Morones Prieto, San Luis Potosí, San Luis Potosí, México.
  • Saavedra Alanís V; Departamento de Biología Molecular, Facultad de Medicina de la Universidad Autónoma de San Luis Potosí, San Luis Potosí, San Luis Potosí, México.
  • Reyes Vaca JG; Departamento de Radiología e Imagen, Hospital Central Dr. Ignacio Morones Prieto, San Luis Potosí, San Luis Potosí, México.
  • Bravo Oro A; Departamento de Neuropediatría, Hospital Central Dr. Ignacio Morones Prieto, San Luis Potosí, San Luis Potosí, México. Electronic address: neurologobravo@gmail.com.
Bol Med Hosp Infant Mex ; 74(5): 364-369, 2017.
Article in Es | MEDLINE | ID: mdl-29382480
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Eukaryotic Initiation Factor-2B / Leukoencephalopathies Type of study: Risk_factors_studies Limits: Child / Child, preschool / Humans / Infant / Male Language: Es Journal: Bol Med Hosp Infant Mex Year: 2017 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Eukaryotic Initiation Factor-2B / Leukoencephalopathies Type of study: Risk_factors_studies Limits: Child / Child, preschool / Humans / Infant / Male Language: Es Journal: Bol Med Hosp Infant Mex Year: 2017 Document type: Article