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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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書誌詳細
主要な著者: Yatsenko, Svetlana A., Brundage, Ellen K., Roney, Erin K., Cheung, Sau Wai, Chinault, A. Craig, Lupski, James R.
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2009
主題:
オンライン・アクセス: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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