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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Shranjeno v:
Bibliografske podrobnosti
izdano v:PLoS Genet
Main Authors: 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.
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2015
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4352052/
https://ncbi.nlm.nih.gov/pubmed/25749076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1005050
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