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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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| Hoofdauteurs: | , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BioMed Central
2014
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4118784/ https://ncbi.nlm.nih.gov/pubmed/25053001 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-0500-7-465 |
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