Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo

OBJECTIVE: To investigate the genetic etiology of a patient diagnosed with leukoencephalopathy, brain calcifications, and cysts (LCC). METHODS: Whole-exome sequencing was performed on a patient with LCC and his unaffected family members. The variants were subject to in silico and in vitro functional...

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Detalles Bibliográficos
Autores principales: McNeill, Nathan, Nasca, Alessia, Reyes, Aurelio, Lemoine, Benjamin, Cantarel, Brandi, Vanderver, Adeline, Schiffmann, Raphael, Ghezzi, Daniele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511247/
https://www.ncbi.nlm.nih.gov/pubmed/28748214
http://dx.doi.org/10.1212/NXG.0000000000000162

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511247/
https://www.ncbi.nlm.nih.gov/pubmed/28748214
http://dx.doi.org/10.1212/NXG.0000000000000162

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