Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

Inverted repeats (IRs) can facilitate structural variation as crucibles of genomic rearrangement. Complex duplication—inverted triplication—duplication (DUP-TRP/INV-DUP) rearrangements that contain breakpoint junctions within IRs have been recently associated with both MECP2 duplication syndrome (MI...

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Detalles Bibliográficos
Autores principales: Beck, Christine R., Carvalho, Claudia M. B., Banser, Linda, Gambin, Tomasz, Stubbolo, Danielle, Yuan, Bo, Sperle, Karen, McCahan, Suzanne M., Henneke, Marco, Seeman, Pavel, Garbern, James Y., Hobson, Grace M., Lupski, James R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352052/
https://www.ncbi.nlm.nih.gov/pubmed/25749076
http://dx.doi.org/10.1371/journal.pgen.1005050

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