Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

The majority of apparently balanced translocation (ABT) carriers are phenotypically normal. However, several mechanisms were proposed to underlie phenotypes in affected ABT cases. In the current study, whole-genome mate-pair sequencing (WG-MPS) followed by Sanger sequencing was applied to further ch...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Aristidou, Constantia, Theodosiou, Athina, Bak, Mads, Mehrjouy, Mana M., Constantinou, Efthymia, Alexandrou, Angelos, Papaevripidou, Ioannis, Christophidou-Anastasiadou, Violetta, Skordis, Nicos, Kitsiou-Tzeli, Sophia, Tommerup, Niels, Sismani, Carolina
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2018
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6173455/
https://ncbi.nlm.nih.gov/pubmed/30289920
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0205298
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