Classification of the dup 15q13.3 CNV: A National data collection

Introduction: The proximal region 15q11q14 is one of the most unstable regions in the human genome, with six recognizable break points (BP1-BP6). In 15q13.3 there is a recurrent small CNV (BP4-BP5) consisting of a 350-680 Kb duplication, encompassing the CHRNA7 gene, which encodes the alpha 7 subuni...

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Bibliographic Details
Main Author: Sousa, A. (author)
Other Authors: Serafim, S. (author), Santos, R. (author), Custódio, S. (author), Ávila, M. (author), Dupont, J. (author), Dias P, P. (author), Moldovan, O. (author), Melo, J. (author), Ferreira, S. (author), Pires, L. (author), Leão, M. (author), Sá, S. (author), Prior, C. (author), Alves, C. (author), Barreta, A. (author), Tarelho, A. (author), Marques, B. (author), Pedro, S. (author), Lopes, F. (author), Maciel, P. (author), Correia, H. (author), Dória, S. (author), Rendeiro, P. (author), Castedo, S. (author), Carreira, I. (author), Sousa, A.B. (author)
Format: conferenceObject
Language:eng
Published: 2015
Subjects:
Doenças Genéticas
15q13.3
Duplicação
CNV
National Data Collection
Online Access:http://hdl.handle.net/10400.18/2734
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2734

Internet

http://hdl.handle.net/10400.18/2734

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