Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing

Familial apparently balanced translocations (ABTs) segregating with discordant phenotypes are extremely challenging for interpretation and counseling due to the scarcity of publications and lack of routine techniques for quick investigation. Recently, next generation sequencing has emerged as an eff...

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Bibliografische gegevens
Gepubliceerd in:PLoS One
Hoofdauteurs: Aristidou, Constantia, Koufaris, Costas, Theodosiou, Athina, Bak, Mads, Mehrjouy, Mana M., Behjati, Farkhondeh, Tanteles, George, Christophidou-Anastasiadou, Violetta, Tommerup, Niels, Sismani, Carolina
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Public Library of Science 2017
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5225008/
https://ncbi.nlm.nih.gov/pubmed/28072833
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0169935
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