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Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort

We report the analyses of breakpoints in 31 phenotypically normal and 14 abnormal carriers of balanced translocations. Our study assesses the differences between balanced translocations in normal carriers and those in abnormal carriers, focusing on the presence of genomic imbalances at the breakpoin...

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Autori principali: Baptista, Julia, Mercer, Catherine, Prigmore, Elena, Gribble, Susan M., Carter, Nigel P., Maloney, Viv, Thomas, N. Simon, Jacobs, Patricia A., Crolla, John A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Human Genetics 2008
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2427237/
https://ncbi.nlm.nih.gov/pubmed/18371933
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.02.012
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