The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

Objective: To describe the systematic analysis of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes, characterise the structural chromosome rearrangements, map the translocation breakpoints, and report detectable genomic imbalances. Methods: DN...

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Dettagli Bibliografici
Autori principali: Gribble, S, Prigmore, E, Burford, D, Porter, K, Ng, B. L., Douglas, E, Fiegler, H, Carr, P, Kalaitzopoulos, D, Clegg, S, Sandstrom, R, Temple, I, Youings, S, Thomas, N, Dennis, N, Jacobs, P, Crolla, J, Carter, N
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2005
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735914/
https://ncbi.nlm.nih.gov/pubmed/15635069
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.024141
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