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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Nat Genet
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2014
Onderwerpen:
Article
Online toegang: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
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items