Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number

BACKGROUND: Chromosome 15q11-13 contains a cluster of imprinted genes essential for normal mammalian neurodevelopment. Deficiencies in paternal or maternal 15q11-13 alleles result in Prader-Willi or Angelman syndromes, respectively, and maternal duplications lead to a distinct condition that often i...

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Autori principali: Hogart, Amber, Leung, Karen N., Wang, Nicholas J., Wu, David J., Driscoll, Jennette, Vallero, Roxanne O., Schanen, N. Carolyn, LaSalle, Janine M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2008
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2634820/
https://ncbi.nlm.nih.gov/pubmed/18835857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2008.061580
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