Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism

Maternal 15q11-q13 duplication is the most common copy number variant in autism, accounting for ∼1-3% of cases. The 15q11-q13 region is subject to epigenetic regulation and genomic copy number losses and gains cause genomic disorders in a parent-of-origin-specific manner. One 15q11-q13 locus encodes...

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Autori principali: Delahanty, Ryan J., Kang, Jingqiong, Brune, Camille W., Kistner, Emily O., Courchesne, Eric, Cox, Nancy J., Cook, Edwin H., Macdonald, Robert L., Sutcliffe, James S.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2009
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3428055/
https://ncbi.nlm.nih.gov/pubmed/19935738
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/mp.2009.118
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