Increased RPA1 Gene Dosage Affects Genomic Stability Potentially Contributing to 17p13.3 Duplication Syndrome

A novel microduplication syndrome involving various-sized contiguous duplications in 17p13.3 has recently been described, suggesting that increased copy number of genes in 17p13.3, particularly PAFAH1B1, is associated with clinical features including facial dysmorphism, developmental delay, and auti...

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Detalles Bibliográficos
Autores principales: Outwin, Emily, Carpenter, Gillian, Bi, Weimin, Withers, Marjorie A., Lupski, James R., O'Driscoll, Mark
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3161930/
https://www.ncbi.nlm.nih.gov/pubmed/21901111
http://dx.doi.org/10.1371/journal.pgen.1002247

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3161930/
https://www.ncbi.nlm.nih.gov/pubmed/21901111
http://dx.doi.org/10.1371/journal.pgen.1002247

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