Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)

Approximately one in 500 individuals carries a reciprocal translocation. Balanced translocations are usually associated with a normal phenotype unless the translocation breakpoints disrupt a gene(s) or cause a position effect. We investigated breakpoint junctions at the sequence level in phenotypica...

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Autores principales: Gajecka, Marzena, Gentles, Andrew J., Tsai, Albert, Chitayat, David, Mackay, Katherine L., Glotzbach, Caron D., Lieber, Michael R., Shaffer, Lisa G.
Formato: Artigo
Lenguaje:Inglês
Publicado: Cold Spring Harbor Laboratory Press 2008
Materias:
Letter
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2577863/
https://ncbi.nlm.nih.gov/pubmed/18765821
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.077453.108
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