Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening

To date, the contribution of disrupted potentially cis-regulatory conserved non-coding sequences (CNCs) to human disease is most likely underestimated, as no systematic screens for putative deleterious variations in CNCs have been conducted. As a model for monogenic disease we studied the involvemen...

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Detalles Bibliográficos
Autores principales: D'haene, Barbara, Attanasio, Catia, Beysen, Diane, Dostie, Josée, Lemire, Edmond, Bouchard, Philippe, Field, Michael, Jones, Kristie, Lorenz, Birgit, Menten, Björn, Buysse, Karen, Pattyn, Filip, Friedli, Marc, Ucla, Catherine, Rossier, Colette, Wyss, Carine, Speleman, Frank, De Paepe, Anne, Dekker, Job, Antonarakis, Stylianos E., De Baere, Elfride
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689649/
https://www.ncbi.nlm.nih.gov/pubmed/19543368
http://dx.doi.org/10.1371/journal.pgen.1000522

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