Molecular Analysis of a Deletion Hotspot in the NRXN1 Region Reveals the Involvement of Short Inverted Repeats in Deletion CNVs

NRXN1 microdeletions occur at a relatively high frequency and confer increased risk for neurodevelopmental and neurobehavioral abnormalities. The mechanism that makes NRXN1 a deletion hotspot is unknown. Here, we identified deletions of the NRXN1 region in affected cohorts, confirming a strong assoc...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Chen, Xiaoli, Shen, Yiping, Zhang, Feng, Chiang, Colby, Pillalamarri, Vamsee, Blumenthal, Ian, Talkowski, Michael, Wu, Bai-Lin, Gusella, James F.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2013
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3591860/
https://ncbi.nlm.nih.gov/pubmed/23472757
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.02.006
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars