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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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| 主要な著者: | , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Oxford University Press
2009
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| 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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