Browsing Biochemistry (Scholarly Articles) by Subject "mutation"
Now showing items 1-2 of 2
-
Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders
(Springer Nature, 2013-10-15)Schizophrenia (SZ) and autism spectrum disorders (ASDs) are complex neurodevelopmental disorders that may share an underlying pathology suggested by shared genetic risk variants. We sequenced the exonic regions of 215 genes ... -
An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis
(Oxford University Press (OUP), 2014-01-28)Identifying rare, highly penetrant risk mutations may be an important step in dissecting the molecular etiology of schizophrenia. We conducted a gene-based analysis of large (>100 kb), rare copy-number variants (CNVs) in ...