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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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Détails bibliographiques
Auteurs principaux: Yatsenko, Svetlana A., Brundage, Ellen K., Roney, Erin K., Cheung, Sau Wai, Chinault, A. Craig, Lupski, James R.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2009
Sujets:
Accès en ligne: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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