Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots

Mutations within STXBP1 have been associated with a range of neurodevelopmental disorders implicating the pleotropic impact of this gene. Although the frequency of de novo mutations within STXBP1 for selective cohorts with early onset epileptic encephalopathy is more than 1%, there is no evidence fo...

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Detalles Bibliográficos
Autores principales: Uddin, Mohammed, Woodbury-Smith, Marc, Chan, Ada J. S., Albanna, Ammar, Minassian, Berge, Boelman, Cyrus, Scherer, Stephen W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Genetics Society of America 2018
Materias:
Mutant Screen Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873902/
https://www.ncbi.nlm.nih.gov/pubmed/29438995
http://dx.doi.org/10.1534/g3.118.200080

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873902/
https://www.ncbi.nlm.nih.gov/pubmed/29438995
http://dx.doi.org/10.1534/g3.118.200080

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