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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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Main Authors: Yatsenko, Svetlana A., Brundage, Ellen K., Roney, Erin K., Cheung, Sau Wai, Chinault, A. Craig, Lupski, James R.
格式: Artigo
語言:Inglês
出版: Oxford University Press 2009
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在線閱讀: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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