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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Main Authors: Outwin, Emily, Carpenter, Gillian, Bi, Weimin, Withers, Marjorie A., Lupski, James R., O'Driscoll, Mark
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2011
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3161930/
https://ncbi.nlm.nih.gov/pubmed/21901111
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1002247
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