Sequence analysis of 17 NRXN1 deletions

Louise Kristine Enggaard Hoeffding, Thomas Hansen, Andrés Ingason, Linh Doung, Johan H Thygesen, Rikke Steensbjerre Møller, Niels Tommerup, George Kirov, Dan Rujescu, Lars Larsen, Thomas Werge

11 Citationer (Scopus)

Abstract

Genome instability plays fundamental roles in human evolution and phenotypic variation within our population. This instability leads to genomic rearrangements that are involved in a wide variety of human disorders, including congenital and neurodevelopmental disorders, and cancers. Insight into the molecular mechanisms governing such genomic rearrangements may increase our understanding of disease pathology and evolutionary processes. Here we analyse 17 carriers of non-recurrent deletions in the NRXN1 gene, which have been associated with neurodevelopmental disorders, e.g. schizophrenia, autism and epilepsies.
OriginalsprogEngelsk
TidsskriftAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
Vol/bind165
Udgave nummer1
Sider (fra-til)52-61
Antal sider10
ISSN1552-4841
DOI
StatusUdgivet - jan. 2014

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