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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Vydáno v:Nat Genet
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2014
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4244265/
https://ncbi.nlm.nih.gov/pubmed/25326701
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3120
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