Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report

BACKGROUND: Owing to the number of genetic mutations that contribute to malformations of cortical development, identification of causative mutations in candidate genes is challenging. To overcome these challenges, we performed whole-exome sequencing in this study. CASE PRESENTATION: A Japanese patie...

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Detalles Bibliográficos
Autores principales: Shimojima, Keiko, Narita, Aya, Maegaki, Yoshihiro, Saito, Akira, Furukawa, Toru, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118784/
https://www.ncbi.nlm.nih.gov/pubmed/25053001
http://dx.doi.org/10.1186/1756-0500-7-465

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118784/
https://www.ncbi.nlm.nih.gov/pubmed/25053001
http://dx.doi.org/10.1186/1756-0500-7-465

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