A large, complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

There is a complex relationship between the evolution of segmental duplications and rearrangements associated with human disease. We performed a detailed analysis of one region on chromosome 16p12.1 associated with neurocognitive disease and identified one of the largest structural inconsistencies w...

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Detalles Bibliográficos
Autores principales: Antonacci, Francesca, Kidd, Jeffrey M., Marques-Bonet, Tomas, Teague, Brian, Ventura, Mario, Girirajan, Santhosh, Alkan, Can, Campbell, Catarina D., Vives, Laura, Malig, Maika, Rosenfeld, Jill A., Ballif, Blake C., Shaffer, Lisa G., Graves, Tina A., Wilson, Richard K., Schwartz, David C., Eichler, Evan E.
Formato: Texto
Lenguaje:English
Publicado: 2010
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2930074/
https://www.ncbi.nlm.nih.gov/pubmed/20729854
http://dx.doi.org/10.1038/ng.643

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2930074/
https://www.ncbi.nlm.nih.gov/pubmed/20729854
http://dx.doi.org/10.1038/ng.643

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