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De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance

We report a large series of 173 patients with physical and/or neurological abnormalities and a de novo imbalance identified by array CGH. Breakpoint intervals were screened for the presence of low copy repeats (LCRs) to distinguish between rearrangements formed by non-allelic homologous recombinatio...

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Hlavní autoři: Sibbons, Charlene, Morris, Joan K, Crolla, John A, Jacobs, Patricia A, Thomas, N Simon
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2012
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3260930/
https://ncbi.nlm.nih.gov/pubmed/21952720
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.182
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