Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability

Recurrent deletions of chromosome 15q13.3 associate with intellectual disability, schizophrenia, autism and epilepsy. To gain insight into its instability, we sequenced the region in patients, normal individuals and nonhuman primates. We discovered five structural configurations of the human chromos...

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Detalles Bibliográficos
Autores principales: Antonacci, Francesca, Dennis, Megan Y., Huddleston, John, Sudmant, Peter H., Steinberg, Karyn Meltz, Rosenfeld, Jill A., Miroballo, Mattia, Graves, Tina A., Vives, Laura, Malig, Maika, Denman, Laura, Raja, Archana, Stuart, Andrew, Tang, Joyce, Munson, Brenton, Shaffer, Lisa G., Amemiya, Chris T., Wilson, Richard K., Eichler, Evan E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4244265/
https://www.ncbi.nlm.nih.gov/pubmed/25326701
http://dx.doi.org/10.1038/ng.3120

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4244265/
https://www.ncbi.nlm.nih.gov/pubmed/25326701
http://dx.doi.org/10.1038/ng.3120

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