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Structures and Molecular Mechanisms for Common 15q13.3 Microduplications Involving CHRNA7: Benign or Pathological?

We have investigated four ~1.6-Mb microduplications and 55 smaller 350–680-kb microduplications at 15q13.2–q13.3 involving the CHRNA7 gene that were detected by clinical microarray analysis. Applying high-resolution array-CGH, we mapped all 118 chromosomal breakpoints of these microduplications. We...

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Autors principals: Szafranski, Przemyslaw, Schaaf, Christian P., Person, Richard E., Gibson, Ian B., Xia, Zhilian, Mahadevan, Sangeetha, Wiszniewska, Joanna, Bacino, Carlos A., Lalani, Seema, Potocki, Lorraine, Kang, Sung-Hae, Patel, Ankita, Cheung, Sau Wai, Probst, Frank J., Graham, Brett H., Shinawi, Marwan, Beaudet, Arthur L., Stankiewicz, Pawel
Format: Artigo
Idioma:Inglês
Publicat: 2010
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3162316/
https://ncbi.nlm.nih.gov/pubmed/20506139
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21284
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