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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Detalhes bibliográficos
Autor principal: Sousa, A. (author)
Outros Autores: 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)
Formato: conferenceObject
Idioma:eng
Publicado em: 2015
Assuntos:
Doenças Genéticas
15q13.3
Duplicação
CNV
National Data Collection
Texto completo:http://hdl.handle.net/10400.18/2734
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2734

Texto Completo

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

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