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Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome

We characterized at the molecular level the genomic rearrangements in 28 unrelated patients with 9q34.3 subtelomeric deletions. Four distinct categories were delineated: terminal deletions, interstitial deletions, derivative chromosomes and complex rearrangements; each results in haploinsufficiency...

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Detalhes bibliográficos
Main Authors: Yatsenko, Svetlana A., Brundage, Ellen K., Roney, Erin K., Cheung, Sau Wai, Chinault, A. Craig, Lupski, James R.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2678925/
https://ncbi.nlm.nih.gov/pubmed/19293338
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp114
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